Dr Ali Al Kaissi, MD, MSc, Honorary Doctorate(StPetersburg) - Orthopedic Hospital of Spesing  - Honorary Professor

Dr Ali Al Kaissi

MD, MSc, Honorary Doctorate(StPetersburg)

Orthopedic Hospital of Spesing

Honorary Professor

Vienna, Vienna | Austria

Additional Specialties: Heritable Bone Disorders

ORCID logohttps://orcid.org/0000-0003-1599-6050

Dr Ali Al Kaissi, MD, MSc, Honorary Doctorate(StPetersburg) - Orthopedic Hospital of Spesing  - Honorary Professor

Dr Ali Al Kaissi

MD, MSc, Honorary Doctorate(StPetersburg)

Introduction

Primary Affiliation: Orthopedic Hospital of Spesing - Vienna, Vienna , Austria

Additional Specialties:

Research Interests:

Publications

115Publications

2228Reads

449Profile Views

150PubMed Central Citations

Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.

Clin Rheumatol 2020 Feb 18;39(2):553-560. Epub 2019 Oct 18.

Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1007/s10067-019-04783-zDOI Listing
February 2020
5 Reads
1.774 Impact Factor

Robinow syndrome: report of two cases and review of the literature

Australas Radiol

We report two patients with Robinow syndrome, review the published literature and stress the importance and limitations of radiographic examination in the diagnosis of this disorder, which shows extreme clinical and radiographic variability. The radiographic differential diagnosis of Robinow syndrome is discussed.

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September 2019
9 Reads

A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome

Skeletal Radiology

Phenotypic features consistent but not completely diagnostic for spondyloepimetaphyseal dysplasia joint laxity (SEMDJL) were encountered in a 7-year-old-girl. Additional tomographic features of a hypoplastic atlas (assimilation of the posterior arch of the atlas) and unduly long odontoid process were seen. We report what might be a novel type of SEMDJL

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September 2019
4 Reads

Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome

Calcif Tissue Int.

We describe a tall-statured 14-year-old boy who illustrated the full phenotypic and radiographic features of Stickler syndrome type I. A bone biopsy showed evidence of reduced bone mass and bone turnover, such as reduced BV/TV (-43%), TbTh (-29%), and OS/BS (-48%), Ob.S/BS (-27%), and Oc/BS (-47%) compared to "age-matched" controls. Moreover, there was evidence that the mineralization process was severely disturbed. Quantitative backscattered electron imaging revealed that the bone mineralization density distribution (BMDD) of cancellous (Cn) as well as cortical (Ct) bone was shifted toward lower mineralization compared to a young control reference cohort. BMDD parameters of mean degree of mineralization, Cn Ca (-9.8%) and Ct Ca (-18.0%), were dramatically decreased. To the best of our knowledge this is the first clinical report describing bone biopsy findings in a boy with Stickler syndrome. Such a severe undermineralization of bone matrix might essentially contribute to the compromised mechanical competence of the skeleton found in this patient

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September 2019
7 Reads

Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review

Afr Health Sci

We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.

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September 2019
7 Reads

Distinctive vertebral abnormalities in a patient with VACTERL association

Rofo

During embryogenesis, urorectal septal formation occurs around the same time that VATER association develops. Axial mesodermal dysplasia spectrum is thought to arise as a consequence of aberrant mesodermal migration during early development, resulting in bronchial, pulmonary, cardiovascular, gastrointestinal, renal, urogenital and skeletal abnormalities. Congenital vertebral defects that result from disruption of the induction and formation of the axial skeleton include, spondylocostal dysostosis, Jarcho-Levin syndrome, Klippel-Feil anomaly and a wide range of syndromic malformation complex such as VATER and VACTERL association (David A et al. Am J Med Genet 1996; 62: 1 – 5). VACTERL association is a well-known association of abnormalities including vertebral anomalies, anal atresia, tracheo-esophageal fistula, renal abnormalities and limb abnormalities. VACTERL association sometimes termed VATER association depending on the clinical criteria used for the diagnosis. VATER is used to describe the association of Vertebral defects, Anal atresia or stenosis, Tracheo-Esophageal fistula, Radial defects and Renal anomalies (Endoh N et al. Cogen Anoms 2003; 43: 180 – 183). Recently, VATER association and persistent cloaca have been proposed to represent a continuous spectrum of anomalies, but the pathophysiology concerning the continuity of the development and the clinical condition are still unclear (Mori M et al. Tohoku J Exp Med 2007; 213: 291 – 295). The importance of recognising the full extent of spinal abnormalities lies in pre-empting the complications that might ensue.

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September 2019
7 Reads

Is webbing (pterygia) a constant feature in patients with Escobar syndrome?

Orthopaedic Surgery

We describe two unrelated patients aged 9 and 12 years. The first patient presented with multiple congenital contractures not associated with webbing (pterygia). Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation). The characteristics of the second child were compatible with the phenotypic and genotypic criteria for Escobar syndrome. Both patients manifested the typical facial features suggestive of Escobar syndrome. The aim of this paper is twofold: first, to illustrate that the absence of popliteal webbing is not a sufficient reason to exclude Escobar syndrome in patients with multiple contractures and second, dysmorphic facial features and the presence of certain radiological abnormalities might be considered baseline diagnostic tools in favor of this syndromic entity.

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September 2019
7 Reads

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

Bone 2019 06 11;123:48-55. Epub 2018 Oct 11.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, Vienna, Austria; Orthopedic Hospital of Speising, Pediatric Department, Vienna, Austria.

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http://dx.doi.org/10.1016/j.bone.2018.10.008DOI Listing
June 2019
43 Reads

Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome.

Medicines (Basel) 2019 May 7;6(2). Epub 2019 May 7.

Department of Medical Chemistry, Medical University of Vienna, 1090 Vienna, Austria.

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https://www.mdpi.com/2305-6320/6/2/54
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http://dx.doi.org/10.3390/medicines6020054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631250PMC
May 2019
6 Reads

Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.

Medicines (Basel) 2019 May 29;6(2). Epub 2019 May 29.

Department of Medical Chemistry, Medical University of Vienna, Vienna 1090, Austria.

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http://dx.doi.org/10.3390/medicines6020060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631815PMC
May 2019
17 Reads

Chronic arsenicosis and cadmium exposure in wild snowshoe hares (Lepus americanus) breeding near Yellowknife, Northwest Territories (Canada), part 2: Manifestation of bone abnormalities and osteoporosis

doi: 10.1016/j.scitotenv.2017.08.280. Epub 2017 Sep 25

Sci Total Environ

Various bone abnormalities, including osteoporosis, have been associated with chronic arsenic and cadmium exposure in experimental animal models, but information regarding the bone pathology of wild population of small mammals breeding in contaminated environment is limited. This present study was conducted to comparatively assess the prevalence and pattern of skeletal abnormalities in free ranging snowshoe hares inhabiting an area heavily contaminated by arsenic and other trace metals, near the vicinity of the abandoned Giant mine, and in a reference location approximately 20km from the city of Yellowknife, Northwest Territories, Canada. The femur and vertebrae of snowshoe hares from the mine area and reference location were subjected to bone densitometry examination and biomechanical testing using dual energy X-ray absorptiometry (DXA) and 3-point bending test. t-test results indicated that femoral densitometry parameters such as bone mineral density (BMD) (p=0.5), bone mineral content (BMC) (p=0.675), bone area (BA) (p=0.978) and tissue area (TA) (p=0.549) were not significantly different between locations. All densitometry parameters of the vertebrae (BMD, BA and TA) differed between locations (p<0.05), except for BMC (p=0.951) which showed no significant difference between the two locations. Vertebrae from the mine area also showed relatively lower BA and TA compared to the reference location. A constellation of skeletal abnormalities were also observed along the axial and appendicular bones respectively. Specifically, growth defects, osteoporosis, cortical fractures, sclerosis, and cyst like changes were commonly observed in the femurs and vertebrae of hares from both locations. With respect to biomechanical properties, only bone stiffness and peak load tended to be relatively reduced in specimens from the mine area, whereas work to failure was notably increased in specimens from the reference site compared to those from the mine area. Taken together, the results of this preliminary study suggest that chronic concomitant exposure to arsenic and cadmium may be involved in the etiology of various bone abnormalities, including osteoporosis in wild population of snowshoe hares from the Yellowknife area. The result presented in this study represent the first evaluation of osteological effects in free-ranging furbearers (snowshoe hares) diagnosed with arsenicosis, and concomitantly exposed to environmental levels of cadmium.

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September 2018
5 Reads

Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.

Orthop Surg 2018 Aug 19;10(3):241-246. Epub 2018 Jul 19.

Institute of Medical Chemistry, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1111/os.12382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594483PMC
August 2018
69 Reads

Turning the backbone into an ankylosed concrete-like structure: Case report.

Medicine (Baltimore) 2018 Apr;97(15):e0278

Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/MD.0000000000010278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908595PMC
April 2018
8 Reads
5.723 Impact Factor

Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment.

Afr J Paediatr Surg 2016 Jul-Sep;13(3):125-30

Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.4103/0189-6725.187808DOI Listing
October 2017
41 Reads

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Afr J Paediatr Surg 2016 Apr-Jun;13(2):88-94

Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.4103/0189-6725.182563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955442PMC
September 2017
56 Reads
1 Citation

Spine malformation complex in 3 diverse syndromic entities: Case reports.

Medicine (Baltimore) 2016 Dec;95(50):e5505

aLudwig Boltzmann Institute of Osteology, the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital bOrthopaedic Hospital of Speising, Paediatric Department cDepartment of Pediatrics, Kaiser-Franz-Josef Spital, Vienna, Austria dAxial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia ePediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia fInstitute of Medical Chemistry, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1097/MD.0000000000005505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5268028PMC
December 2016
23 Reads
5.723 Impact Factor

Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome.

Afr J Paediatr Surg 2015 Jan-Mar;12(1):36-40

Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.4103/0189-6725.150969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955504PMC
November 2016
13 Reads

Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele.

Afr J Paediatr Surg 2014 Oct-Dec;11(4):341-6

Department of First Medical, Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, Hanusch Hospital; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.4103/0189-6725.143163DOI Listing
September 2016
18 Reads
2 Citations

Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

J Clin Med Res 2016 Aug 1;8(8):605-9. Epub 2016 Jul 1.

Institute of Medical Chemistry, Medical University of Vienna, Austria.

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http://dx.doi.org/10.14740/jocmr2593wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931807PMC
August 2016
31 Reads

Progressive Collapse of the Thoracic Cage.

Am J Med 2016 Jun 18;129(6):e1-4. Epub 2016 Feb 18.

Department of Pediatric Orthopedic Surgery, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.1016/j.amjmed.2016.01.036DOI Listing
June 2016
10 Reads
1 Citation
5.003 Impact Factor

The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.

J Clin Med Res 2016 Mar 26;8(3):246-53. Epub 2016 Jan 26.

Institute of Medical Chemistry, Medical University of Vienna, Austria.

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http://dx.doi.org/10.14740/jocmr2465wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737038PMC
March 2016
49 Reads
2 Citations

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).

J Clin Med Res 2015 Dec 23;7(12):1002-6. Epub 2015 Oct 23.

Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.

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http://dx.doi.org/10.14740/jocmr2341wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625807PMC
December 2015
14 Reads

Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

Clin Case Rep 2015 Sep 20;3(9):762-6. Epub 2015 Aug 20.

Paediatric Department, Orthopaedic Hospital of Speising Vienna, Austria.

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http://dx.doi.org/10.1002/ccr3.317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574794PMC
September 2015
22 Reads

Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II

Clin Case Rep

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.

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September 2015
7 Reads

Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.

Afr J Paediatr Surg 2014 Jan-Mar;11(1):3-7

Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.4103/0189-6725.129201DOI Listing
April 2015
9 Reads

Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I.

Case Rep Orthop 2015 28;2015:425970. Epub 2015 Feb 28.

Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.1155/2015/425970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359824PMC
March 2015
50 Reads

Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.

Eur Spine J 2015 Mar 7;24(3):594-9. Epub 2014 Feb 7.

Ludwig Boltzmann Institute of Osteology, The Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Heinrich Collin Str. 30 A, 1140, Vienna, Austria,

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http://dx.doi.org/10.1007/s00586-014-3204-3DOI Listing
March 2015
26 Reads
2 Citations
2.473 Impact Factor

Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.

Orthop Surg 2015 Feb;7(1):50-6

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Vienna, Austria; First Medical Department, Hanusch Hospital, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.1111/os.12157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583323PMC
February 2015
26 Reads

Corrections of lower limb deformities in patients with diastrophic dysplasia.

Orthop Surg 2014 Nov;6(4):274-9

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.1111/os.12146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583372PMC
November 2014
12 Reads

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

J Clin Imaging Sci 2014 29;4:53. Epub 2014 Sep 29.

Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.4103/2156-7514.141939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204300PMC
October 2014
15 Reads

A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.

Am J Med Genet A 2014 Sep 16;164A(9):2338-43. Epub 2014 May 16.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, Vienna, Austria; AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.1002/ajmg.a.36614DOI Listing
September 2014
19 Reads
1 Citation
2.160 Impact Factor

Windswept lower limb deformities in patients with hypophosphataemic rickets.

Swiss Med Wkly 2013 6;143:w13904. Epub 2013 Dec 6.

Orthopaedic Hospital of Speising, Vienna, AUSTRIA;

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http://dx.doi.org/10.4414/smw.2013.13904DOI Listing
June 2014
133 Reads
3 Citations

Axial correction of the lower limb deformities in a girl with anauxetic dysplasia.

Musculoskelet Surg 2014 Jun 24;98(1):71-5. Epub 2012 Apr 24.

Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Parkovaya str., 64-68, Pushkin, Saint Petersburg, Russia.

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http://dx.doi.org/10.1007/s12306-012-0200-9DOI Listing
June 2014
15 Reads

Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V.

Case Rep Orthop 2014 18;2014:780959. Epub 2014 Mar 18.

Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Street 109, 1130 Vienna, Austria.

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http://dx.doi.org/10.1155/2014/780959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976949PMC
April 2014
10 Reads
1 Citation

Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.

Case Rep Orthop 2014 29;2014:186973. Epub 2014 Jan 29.

Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Staße 109, 1130 Vienna, Austria.

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http://dx.doi.org/10.1155/2014/186973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926397PMC
March 2014
12 Reads

Radiographic and tomographic analysis in patients with stickler syndrome type I.

Int J Med Sci 2013 3;10(9):1250-8. Epub 2013 Aug 3.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.7150/ijms.4997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739025PMC
February 2014
13 Reads
2 Citations
2.003 Impact Factor

Spinal exostosis in a boy with multiple hereditary exostoses.

Case Rep Orthop 2013 10;2013:758168. Epub 2013 Nov 10.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department Heinrich Collin Strasse 30 A, 1140 Vienna, Austria ; Paediatric Department, Orthopädisches Spital Speising, Speisinger Strasse 109 A, 1130 Vienna, Austria.

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http://dx.doi.org/10.1155/2013/758168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3844191PMC
December 2013
13 Reads
1 Citation

Is webbing (pterygia) a constant feature in patients with Escobar syndrome?

Orthop Surg 2013 Nov;5(4):297-301

First Medical Department, Hanusch Hospital, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Center Meidling, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/10.1111/os.12064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583299PMC
November 2013
23 Reads

Broad spectrum of skeletal malformation complex in patients with cleidocranial dysplasia syndrome: radiographic and tomographic study.

Clin Med Insights Arthritis Musculoskelet Disord 2013 19;6:45-55. Epub 2013 Aug 19.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria. ; Orthopedic Hospital of Speising, Pediatric Department, Vienna, Austria.

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http://dx.doi.org/10.4137/CMAMD.S11933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762605PMC
September 2013
60 Reads
2 Citations

Hip dysplasia and spinal osteochondritis (Scheuermann's disease) in a girl with type II manifesting collagenopathy

Orthopade

AbstractOBJECTIVES: This paper describes the natural course of irritable hip pain associated with spinal rigidity and pain in the thoracic region with subsequent development of mild kyphosis in a girl with a mutation in the collagen 2 alpha 1 gene (type II collagenopathy).METHODS: Phenotypic and genotypic characterization was carried out in a 14-year-old girl to identify the underlying pathology of severe irritable hip pain associated with thoracic spinal rigidity and pain. Detailed clinical examination, skeletal survey and genetic testing were performed accordingly. Bernese periacetabular osteotomy was used to alleviate pain and to improve the anatomical correlation of the acetabular and femoral heads.RESULTS: Short stature associated with acetabulo-femoral dysplasia, spinal osteochondritis (Scheuermann's disease) and mild thoracic kyphosis were the most prominent abnormalities. Genetic analysis showed a heterozygous mutation in the collagen type II gene (COL2A1-c.1636G>A, p. G546S). A Bernese periacetabular osteotomy was performed to improve the clinical status of the patient. There was significant improvement in the extrusion index, the acetabular index and the lateral center-edge angle.CONCLUSIONS: Hip dysplasia and Scheuermann's osteochondritis have never been reported in connection with a mutation in COL2A1 (collagenopathy type II). Awareness is needed for careful phenotypic and genotypic characterization in patients with irritable hip pain and spinal stiffness.

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September 2013
4 Reads

Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis.

Ger Med Sci 2013 28;11:Doc06. Epub 2013 Mar 28.

Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia.

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http://dx.doi.org/10.3205/000174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614015PMC
June 2013
19 Reads
1 Citation

Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).

Eur Spine J 2013 May 30;22 Suppl 3:S409-15. Epub 2012 Sep 30.

First Medical Department, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Heinrich Collin Str. 30, 1140, Vienna, Austria.

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http://dx.doi.org/10.1007/s00586-012-2518-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641239PMC
May 2013
33 Reads
2.473 Impact Factor

Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia.

Open Orthop J 2013 8;7:33-9. Epub 2013 Feb 8.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria ; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.

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http://dx.doi.org/10.2174/1874325001307010033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580759PMC
March 2013
21 Reads
3 Citations

Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

Orthop Surg 2013 Feb;5(1):33-9

First Medical Department, Hanusch Hospital, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Vienna, Austria.

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http://doi.wiley.com/10.1111/os.12023
Publisher Site
http://dx.doi.org/10.1111/os.12023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583271PMC
February 2013
15 Reads

Musculo-skeletal abnormalities in patients with Marfan syndrome.

Clin Med Insights Arthritis Musculoskelet Disord 2013 29;6:1-9. Epub 2013 Jan 29.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria. ; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565546PMC
February 2013
10 Reads
3 Citations

Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.

Semin Arthritis Rheum 2013 Feb 19;42(4):355-60. Epub 2012 Jun 19.

Ludwig Boltzmann Institute of Osteology, 1st Medical Department and AUVA Trauma Center Meidling, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1016/j.semarthrit.2012.05.002DOI Listing
February 2013
42 Reads
1 Citation
3.925 Impact Factor

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.

Clinics (Sao Paulo) 2012 Dec;67(12):1505-9

Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Ludwig Boltzmann Institute of Osteology, Viena, Austria.

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http://dx.doi.org/10.6061/clinics/2012(12)26DOI Listing
December 2012
27 Reads
1.422 Impact Factor

Coxa vara in conjunction with metaphyseal dysostosis.

J Coll Physicians Surg Pak 2012 Jul;22(7):466-9

Department of Paediatric, Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/07.2012/JCPSP.466469DOI Listing
July 2012
11 Reads
0.320 Impact Factor

Windswept deformity in a patient with Schwartz-Jampel syndrome.

Swiss Med Wkly 2012 19;142:w13519. Epub 2012 Mar 19.

Orthopaedic Hospital of Speising, Speisinger Strasse 109, Vienna, Austria.

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May 2012
30 Reads
1 Citation

The management of knee dislocation in a child with Larsen syndrome.

Clinics (Sao Paulo) 2011 ;66(7):1295-9

Ludwig Boltzmann Institute of Osteology, The Hanusch Hospital of WGKK, AUVA Trauma Center Meidling, 4th Medical Department, Hanusch Hospital,Vienna, Austria.

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http://dx.doi.org/10.1590/s1807-59322011000700030DOI Listing
May 2012
9 Reads
2 Citations
1.422 Impact Factor

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Ger Med Sci 2011 20;9:Doc25. Epub 2011 Sep 20.

Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia.

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http://dx.doi.org/10.3205/000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182029PMC
February 2012
12 Reads

Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome.

J Clin Med Res 2011 Dec 10;3(6):328-30. Epub 2011 Nov 10.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.4021/jocmr704eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279479PMC
December 2011
12 Reads
1 Citation

The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis.

Eur Spine J 2011 Oct 8;20(10):1720-7. Epub 2011 May 8.

4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140 Vienna, Austria.

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http://dx.doi.org/10.1007/s00586-011-1835-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175860PMC
October 2011
21 Reads
2.473 Impact Factor

The diagnosis and management of patients with idiopathic osteolysis.

Pediatr Rheumatol Online J 2011 Oct 13;9:31. Epub 2011 Oct 13.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1546-0096-9-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3203843PMC
October 2011
24 Reads
4 Citations
1.622 Impact Factor

Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.

Clin Dysmorphol 2011 Oct;20(4):182-6

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1097/MCD.0b013e328349bc9bDOI Listing
October 2011
25 Reads
0.420 Impact Factor

Severe skew foot deformity in a patient with freeman-sheldon syndrome.

J Clin Med Res 2011 Oct 26;3(5):265-7. Epub 2011 Sep 26.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.4021/jocmr653eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279490PMC
October 2011
14 Reads

Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome.

Clinics (Sao Paulo) 2010 ;65(10):953-9

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, WGKK, Vienna, Austria.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2972617PMC
http://dx.doi.org/10.1590/s1807-59322010001000005DOI Listing
August 2011
7 Reads
1.422 Impact Factor

Extra phenotypic features in a girl with Miller syndrome.

Clin Dysmorphol 2011 Apr;20(2):66-72

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1097/MCD.0b013e3283416701DOI Listing
April 2011
12 Reads
0.420 Impact Factor

Cervico-thoracic kyphosis in a girl with Pierre Robin sequence.

Ger Med Sci 2011 Mar 14;9:Doc06. Epub 2011 Mar 14.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.3205/000129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070437PMC
March 2011
12 Reads
1 Citation

Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).

J Coll Physicians Surg Pak 2010 Nov;20(11):770-2

Department of Orthopaedics, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/11.2010/JCPSP.770772DOI Listing
November 2010
12 Reads
0.320 Impact Factor

Progressive anterior knee pain associated with patellar instability in a 57-year-old father and his daughter.

Skeletal Radiol 2010 Sep;39(9):921, 935-6

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collin Str. 30, Vienna, Austria.

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http://dx.doi.org/10.1007/s00256-010-0880-xDOI Listing
September 2010
11 Reads
1.743 Impact Factor

Clinicoradiographic presentation of a girl with progressive pseudorheumatoid arthropathy.

J Coll Physicians Surg Pak 2010 Feb;20(2):140-1

Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.

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http://dx.doi.org/02.2010/JCPSP.140141DOI Listing
February 2010
14 Reads
0.320 Impact Factor

Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature.

Cases J 2009 Sep 15;2:7873. Epub 2009 Sep 15.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling,4th Medical Department, A-1140 Vienna, Heinrich Collin-Str. 30, Vienna.

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http://dx.doi.org/10.4076/1757-1626-2-7873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769382PMC
September 2009
41 Reads

Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature.

Cases J 2009 Jun 17;2:6729. Epub 2009 Jun 17.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740093PMC
June 2009
23 Reads
3 Citations

Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association.

Am J Med Genet A 2009 Mar;149A(3):470-4

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1002/ajmg.a.32660DOI Listing
March 2009
18 Reads
3 Citations
2.160 Impact Factor

Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia.

Skeletal Radiol 2009 Mar 3;38(3):293-6. Epub 2008 Dec 3.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collins Str., 30, 1140 Vienna, Austria.

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http://dx.doi.org/10.1007/s00256-008-0623-4DOI Listing
March 2009
12 Reads
5 Citations
1.743 Impact Factor

Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature.

Cases J 2009 Feb 9;2(1):133. Epub 2009 Feb 9.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA, Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-2-133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2651856PMC
February 2009
15 Reads
2 Citations

Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.

Pediatr Rheumatol Online J 2009 Feb 4;7. Epub 2009 Feb 4.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1546-0096-7-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2645398PMC
February 2009
15 Reads
3 Citations
1.622 Impact Factor

Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature.

Cases J 2009 Jan 13;2(1):45. Epub 2009 Jan 13.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-2-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648951PMC
January 2009
13 Reads
1 Citation

Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review.

Cases J 2008 Dec 19;1(1):407. Epub 2008 Dec 19.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614953PMC
December 2008
16 Reads
6 Citations

Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report.

Cases J 2008 Dec 22;1(1):410. Epub 2008 Dec 22.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2621127PMC
December 2008
15 Reads
1 Citation

Outward bulging of the right parietal bone in connection with fibrous dysplasia in an infant: a case report.

Cases J 2008 Nov 24;1(1):347. Epub 2008 Nov 24.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2611982PMC
November 2008
11 Reads
1 Citation

Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.

Cases J 2008 Nov 18;1(1):324. Epub 2008 Nov 18.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2600790PMC
November 2008
14 Reads
1 Citation

A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

Cases J 2008 Oct 24;1(1):271. Epub 2008 Oct 24.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584075PMC
October 2008
11 Reads

Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.

Cases J 2008 Oct 24;1(1):270. Epub 2008 Oct 24.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579916PMC
October 2008
17 Reads
1 Citation

Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report.

Cases J 2008 Aug 18;1(1):109. Epub 2008 Aug 18.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2542345PMC
August 2008
18 Reads
2 Citations

Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.

Cases J 2008 Aug 21;1(1):121. Epub 2008 Aug 21.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533000PMC
August 2008
13 Reads
2 Citations

Ball and socket ankle joint in connection with bilateral tarsal synostosis in a boy with congenital absence of the portal vain: a novel malformation complex.

Cases J 2008 Aug 8;1(1):76. Epub 2008 Aug 8.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1757-1626-1-76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518131PMC
August 2008
12 Reads

Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report.

J Med Case Rep 2008 Aug 11;2:263. Epub 2008 Aug 11.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1752-1947-2-263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518559PMC
August 2008
20 Reads
1 Citation

Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning.

Spine (Phila Pa 1976) 2008 Jun;33(13):E425-8

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1097/BRS.0b013e318175c2deDOI Listing
June 2008
22 Reads
2 Citations
2.300 Impact Factor

A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.

Skeletal Radiol 2008 May 7;37(5):469-73. Epub 2008 Feb 7.

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1007/s00256-007-0443-yDOI Listing
May 2008
35 Reads
1 Citation
1.743 Impact Factor

Persistent cloaca associated with a duplicated left leg: a novel disorganization-like syndrome.

Clin Dysmorphol 2008 Apr;17(2):137-9

4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital, Vienna, Vienna.

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https://insights.ovid.com/crossref?an=00019605-200804000-000
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http://dx.doi.org/10.1097/MCD.0b013e3282efe244DOI Listing
April 2008
11 Reads
0.420 Impact Factor

A patient with melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report.

J Med Case Rep 2008 Feb 19;2:51. Epub 2008 Feb 19.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1752-1947-2-51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276222PMC
February 2008
11 Reads

Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum.

Clin Dysmorphol 2008 Jan;17(1):65-8

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1097/MCD.0b013e328105d91fDOI Listing
January 2008
13 Reads
1 Citation
0.420 Impact Factor

Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.

Eur Spine J 2007 Dec 24;16 Suppl 3:265-70. Epub 2007 Jan 24.

Osteology research, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital, Heinrich Collin-Str. 30, 1140, Vienna, Austria.

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http://dx.doi.org/10.1007/s00586-006-0297-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2148083PMC
December 2007
45 Reads
3 Citations
2.473 Impact Factor

Distinctive spinal changes in two patients with unusual forms of autosomal dominant endosteal hyperostosis: a case series.

J Med Case Rep 2007 Nov 22;1:142. Epub 2007 Nov 22.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collin Str, 30 A-1140, Vienna, Austria.

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http://dx.doi.org/10.1186/1752-1947-1-142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2194708PMC
November 2007
19 Reads

Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia.

Pediatr Rheumatol Online J 2007 Sep 27;5:19. Epub 2007 Sep 27.

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4 th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1546-0096-5-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2045086PMC
September 2007
24 Reads
1 Citation
1.622 Impact Factor

Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins.

Clin Dysmorphol 2007 Jul;16(3):151-5

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, Vienna, Austria.

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http://dx.doi.org/10.1097/MCD.0b013e32810fd756DOI Listing
July 2007
12 Reads
1 Citation
0.420 Impact Factor

Vertebral hyperostosis, ankylosed vertebral fracture and atlantoaxial rotatory subluxation in an elderly patient with a history of infantile idiopathic scoliosis; a case report.

J Med Case Rep 2007 Jun 6;1:25. Epub 2007 Jun 6.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1752-1947-1-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1892029PMC
June 2007
14 Reads

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

Am J Med Genet A 2007 Feb;143(4):349-54

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1002/ajmg.a.31610DOI Listing
February 2007
33 Reads
7 Citations
2.160 Impact Factor

Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome.

Orphanet J Rare Dis 2007 Jan 8;2. Epub 2007 Jan 8.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1186/1750-1172-2-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1774563PMC
January 2007
24 Reads
2 Citations
3.360 Impact Factor

A novel form of ischio-vertebral syndrome.

Skeletal Radiol 2007 Jan 18;36(1):77-81. Epub 2006 Mar 18.

Department of Orthopaedics, Hopital des Enfants Malades, Tunis, Tunesie.

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http://dx.doi.org/10.1007/s00256-005-0073-1DOI Listing
January 2007
13 Reads
2 Citations
1.743 Impact Factor

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis.

BMC Musculoskelet Disord 2006 Dec 5;7:94. Epub 2006 Dec 5.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collins Str, 30 A-1140, Vienna, Austria.

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http://dx.doi.org/10.1186/1471-2474-7-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1712336PMC
December 2006
23 Reads
1 Citation
1.900 Impact Factor

Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome.

J Pediatr (Rio J) 2006 May-Jun;82(3):236-9

Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Vienna, Austria.

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http://dx.doi.org/10.2223/JPED.1489DOI Listing
October 2006
14 Reads
1 Citation
0.940 Impact Factor

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome.

Scoliosis 2006 Oct 16;1:15. Epub 2006 Oct 16.

Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collins Str, 30 A-1140, Vienna, Austria.

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http://dx.doi.org/10.1186/1748-7161-1-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1624850PMC
October 2006
19 Reads
1 Citation

Progressive congenital torticollis in VATER association syndrome.

Spine (Phila Pa 1976) 2006 May;31(12):E376-8

Service d'Orthopedie Infantile-Hopital d'Enfants de Tunis, Tunis, Tuvalu.

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http://dx.doi.org/10.1097/01.brs.0000218590.16700.56DOI Listing
May 2006
17 Reads
2.300 Impact Factor

Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity.

Am J Med Genet A 2005 Nov;138(4):374-8

Paediatric Orthopaedic Surgery, Children's Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1002/ajmg.a.30968DOI Listing
November 2005
23 Reads
1 Citation
2.160 Impact Factor

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.

Afr Health Sci 2005 Sep;5(3):270-5

Service d'Orthopedie Infantile, Hopital d'Enfants de Tunis.

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http://dx.doi.org/10.5555/afhs.2005.5.3.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831925PMC
September 2005
13 Reads
0.662 Impact Factor

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Australas Radiol

We report a boy with a unique, "new" form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia

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September 2005
5 Reads

A novel syndrome resembling Desbuquois dysplasia.

Am J Med Genet A 2005 Jan;132A(1):68-75

Department of Paediatric Orthopaedics, Children's Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1002/ajmg.a.30344DOI Listing
January 2005
10 Reads
2 Citations
2.160 Impact Factor

Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family.

Swiss Med Wkly 2003 Dec;133(45-46):625-8

Sevice d'Orthopaedie infantile, Hopital d'Enfants de Tunis, Tunisia.

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http://dx.doi.org/2003/45/smw-10281DOI Listing
December 2003
22 Reads
4 Citations

Hypohidrotic ectodermal dysplasia with tibial aplasia.

Clin Dysmorphol 2002 Jul;11(3):175-8

Department of Paediatric Orthopaedics, Hopital d'infants, Tunis.

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http://dx.doi.org/10.1097/00019605-200207000-00004DOI Listing
July 2002
19 Reads
4 Citations
0.420 Impact Factor

Letter: Acid secretion by gastric mucous membrane.

Authors:
R P Durbin

Am J Physiol 1975 Dec;229(6):1726

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http://dx.doi.org/10.1152/ajplegacy.1975.229.6.1726DOI Listing
December 1975

Varus deformity of the left lower extremity causing degenerative lesion of the posterior horn of the left medial meniscus in a patient with Paget's disease of bone

Ger Med Sci

We report on a 42-year-old woman who presented with persistent pain in her left knee with no history of trauma. Sagittal T1-weighted MRI of the left knee showed discontinuity between the anterior and posterior horns of the left medial meniscus, causing effectively the development of degenerative lesion of the posterior horn. The latter was correlated to varus deformity of the left lower extremity associated with subsequent narrowing of the medial knee joint. The unusual craniofacial contour of the patient, the skeletal survey and the elevated serum alkaline phosphatase were compatible with the diagnosis of Paget's disease of the bone. To alleviate the adverse effect of the mal-alignment of the left femur onto the left knee, corrective osteotomy of the left femoral diaphysis by means of fixators was performed. To the best of our knowledge this is the first clinical report describing the management and the pathological correlation of a unilateral varus deformity of the femoral shaft and degenerative lesions of the left knee in a patient with Paget's disease of the bone

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November -0001
13 Reads

A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3

American Journal of MEDICAL Genetics

We describe a-2-year-old boy who presented with a neonatal history of thrombocytopenia associated with a constellation of limb malformations mimicking split hand/foot malformation with long bone deficiency (SHFLD) syndrome. Limb malformations consisted of unilateral monodactyly with radial aplasia, unilateral split foot and bilateral club foot. Tibial aplasia of one limb and tibial hypoplasia of the other limb were notable. Partial agenesis of the sacrum was additional skeletal malformation. Craniofacial features included dense thick scalp hair, narrow frontal area, thick eye-brows, deep-set eyes, depressed nasal bridge, and small overhanging nasal tip, full-cheeks, and large ears. Array-CGH showed duplication of the short arm of chromosome 17p13.3 in the boy and his father, respectively. The father was free from any skeletal abnormalities, though he shares similar craniofacial dysmorphic features like his son. In addition, a paternal sib (uncle of the proband) manifested a phenotype similar to that of the proband. To the best of our knowledge the overall phenotypic and genotypic characterizations were consistent but not completely compatible with the traditional type of TAR syndrome or with SHFLD syndrome. We report on what might be a novel variant of SHFLD associated with transient thrombocytopenia, dysmorphic facial features, and a constellation of bone malformations.

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November -0001
9 Reads

Top co-authors

Franz Grill
Franz Grill

Orthopaedic Hospital of Speising

92
Ali Al Kaissi
Ali Al Kaissi

Ludwig Boltzmann Institute of Osteology

82
Klaus Klaushofer
Klaus Klaushofer

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling

69
Rudolf Ganger
Rudolf Ganger

Orthopaedic Hospital of Speising

45
Farid Ben Chehida
Farid Ben Chehida

Ibn Zohr Institute of Radiology and Imaging

28
Maher Ben Ghachem
Maher Ben Ghachem

Children Hospital

24
Vladimir Kenis
Vladimir Kenis

Pediatric Orthopedic Institute n.a. H. Turner

18
Susanne Gerit Kircher
Susanne Gerit Kircher

Institute of Medical Chemistry

10
Jochen G Hofstaetter
Jochen G Hofstaetter

Vienna General Hospital

8