29,385 results match your criteria Multiple Epiphyseal Dysplasia


[Tracheobronchopathia osteochondroplastica: a clinicopathological analysis of 18 cases].

Zhonghua Bing Li Xue Za Zhi 2019 Apr;48(4):303-306

Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

To investigate the clinical symptoms, imaging features, pathologic manifestations and diagnosis of tracheobronchopathia osteochondroplastica (TO). The clinical data, imaging and pathologic features and outcome of 18 TO patients diagnosed at the First Affiliated Hospital of Zhengzhou University from August 2011 to August 2018 were collected and analyzed. The 18 TO patients included 10 males and 8 females; patients' age range was 31 to 64 years (mean 52 years). Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.04.008DOI Listing
April 2019
1 Read

Patients with severe slipped capital femoral epiphysis treated by the modified Dunn procedure have low rates of avascular necrosis, good outcomes, and little osteoarthritis at long-term follow-up.

Bone Joint J 2019 Apr;101-B(4):403-414

Department of Orthopaedic Surgery, Inselspital, University of Bern, Freiburgstrasse, Bern, Switzerland.

Aims: The modified Dunn procedure has the potential to restore the anatomy in hips with severe slipped capital femoral epiphyses (SCFE). However, there is a risk of developing avascular necrosis of the femoral head (AVN). In this paper, we report on clinical outcome, radiological outcome, AVN rate and complications, and the cumulative survivorship at long-term follow-up in patients undergoing the modified Dunn procedure for severe SCFE. Read More

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http://dx.doi.org/10.1302/0301-620X.101B4.BJJ-2018-1303.R1DOI Listing
April 2019
1 Read

Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.

Orthop Clin North Am 2019 Apr;50(2):193-209

Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Read More

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http://dx.doi.org/10.1016/j.ocl.2018.10.003DOI Listing
April 2019
4 Reads

[Chondromucinous tumors involving craniocerebral slope area: a clinicopathological analysis of eight cases].

Zhonghua Bing Li Xue Za Zhi 2019 Mar;48(3):199-203

Department of Pathology, Henan Provincial People's Hospital, Zhengzhou 450003, China.

To investigate the histological type and clinicopathological characteristics of the craniocerebral slope tumors with chondromucinous features. Retrospective analysis was conducted to analyze chondromucinous tumors in the slope area diagnosed at Henan Provincial People's Hospital from October 2011 to June 2018. Relevant clinical and pathological data were reviewed, and immunohistochemistry was used to investigate the immunophenotype of the tumors. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.03.006DOI Listing
March 2019
1 Read

[Research status of correlation between type IX collagen gene and musculoskeletal diseases].

Zhongguo Gu Shang 2019 Jan;32(1):92-96

The First College of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang, China;

As an important component of articular cartilage, type IX collagen plays an important role in regulating homeostasis of bone and cartilage. The mutation or deletion of gene could disequilibrate homeostasis leads to deformity of corresponding bone and joint, and finally causes multiple epiphyseal dysplasia. Moreover, anatomic variation also leads to biomechanics change of corresponding functional unit, combine with micro-environment change caused by change of genes, osteoarthritis and disc degeneration were occurred under the function of stress over and over again. Read More

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http://dx.doi.org/10.3969/j.issn.1003-0034.2019.01.021DOI Listing
January 2019
5 Reads

[A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Feb;21(2):176-179

Pediatric Intensive Care Unit, Fujian Provincial Maternity and Child Care Center Affiliated to Fujian Medical University, Fuzhou 350001, China.

The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. Read More

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February 2019

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.

Am J Med Genet A 2019 Apr 10;179(4):534-541. Epub 2019 Feb 10.

Tulane Center for Aging, Department of Medicine, Tulane University School of Medicine, New Orleans, Louisiana.

Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Read More

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http://dx.doi.org/10.1002/ajmg.a.61049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424334PMC
April 2019
11 Reads

Capital Femoral Epiphyseal Extension May Confer Physeal Stability in Slipped Capital Femoral Epiphysis.

J Pediatr Orthop 2019 Mar;39(3):119-124

Division of Pediatric Orthopaedics, Department of Orthopaedics, Rainbow Babies and Children's Hospitals at Case Western Reserve University, Cleveland, OH.

Background: Factors including obesity and morphologic parameters around the hip that increase physeal stress are associated with an increased risk of slipped capital femoral epiphysis (SCFE). Recent evidence suggests that superior epiphyseal extension may confer stability to the physis and help protect against SCFE. The purpose of this study is to investigate the relationship between epiphyseal extension and SCFE using an age-matched and sex-matched cohort study. Read More

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http://dx.doi.org/10.1097/BPO.0000000000000881DOI Listing
March 2019
2 Reads

Treatment of diaphyseal pathological fractures in children with monostotic fibrous dysplasia using cortical strut allografts and internal plating: A retrospective clinical study.

Medicine (Baltimore) 2019 Feb;98(5):e14318

Department of Orthopaedic Surgery, The Affiliated Southeast Hospital of Xiamen University, Zhangzhou.

Children with fibrous dysplasia (FD) chronically suffer from pain, pathological fractures, and limb deformities. The most effective methods for managing the associated pathological fractures remain controversial. The purpose of this study was to evaluate the clinical results of the treatment of diaphyseal pathological fractures in children with monostotic fibrous dysplasia (MFD) using cortical strut allografts and internal plating. Read More

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http://dx.doi.org/10.1097/MD.0000000000014318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380873PMC
February 2019
6 Reads

Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study.

Medicine (Baltimore) 2019 Feb;98(5):e14280

Department of Pediatric Orthopedics.

The forearm deformity classified by Masada is a characteristic trait of patients with hereditary multiple exostoses (HME). Ulnar gradual lengthening, which was considered to be a safe and reliable procedure, was popular in treating these difficult deformities, however, delayed consolidation of the callus is uncommon but not rare in literature review. The purpose of this study was to try to identify the risk factors influencing bone healing in gradual ulnar lengthening in HME. Read More

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http://dx.doi.org/10.1097/MD.0000000000014280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380801PMC
February 2019
2 Reads

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.

Orphanet J Rare Dis 2019 01 29;14(1):23. Epub 2019 Jan 29.

College of Medicine, University of South Florida, Tampa, Florida, USA.

Background: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers. Read More

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http://dx.doi.org/10.1186/s13023-019-1004-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350324PMC
January 2019
1 Read

WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

J Hum Genet 2019 Apr 28;64(4):291-296. Epub 2019 Jan 28.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Read More

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http://www.nature.com/articles/s10038-019-0565-9
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http://dx.doi.org/10.1038/s10038-019-0565-9DOI Listing
April 2019
15 Reads

Death of chondrocytes in Kashin-Beck disease: Apoptosis, necrosis or necroptosis?

Int J Exp Pathol 2018 12 24;99(6):312-322. Epub 2019 Jan 24.

School of Public Health, Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases of National Health Commission, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, People's Republic of China.

The purpose of this paper was to investigate chondrocyte distribution and death in the cartilage in Kashin-Beck disease (KBD). Apoptotic chondrocytes were detected by TUNEL assay. Ultrastructural changes were examined by transmission electron microscope (TEM). Read More

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http://doi.wiley.com/10.1111/iep.12297
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http://dx.doi.org/10.1111/iep.12297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384500PMC
December 2018
14 Reads

Tracheobronchopathia Osteochondroplastica: A Case Report Illustrating the Importance of Multilevel Workup Clinical, Endoscopic and Histological Assessment in Diagnosis of an Uncommon Disease.

Am J Case Rep 2019 Jan 18;20:74-77. Epub 2019 Jan 18.

Pathology Unit, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, Verona, Italy.

BACKGROUND Tracheobronchopathia osteochondroplastica (TO) is a rare idiopathic disease with a stable course, which involves the lumen of the tracheobronchial tree. Clinical manifestations at time of presentation may differ, typically including hoarseness, persistent and/or productive cough, hemoptyses, and dyspnea. There are no well-established guidelines for diagnostic workup and treatment. Read More

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http://dx.doi.org/10.12659/AJCR.911859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345107PMC
January 2019

Slipped capital femoral epiphysis in an adult with congenital hypopituitarism: A case report.

Medicine (Baltimore) 2019 Jan;98(3):e13997

Department of Orthopedic Surgery, The First Hospital of Jilin University, Changchun, Jilin, China.

Rationale: Slipped capital femoral epiphysis (SCFE) is a common hip problem in adolescents, usually individuals between 8 and 15 years old. Because of the frequent finding of growth abnormalities in affected children, various endocrine disturbances have been reported as the cause of the disease. However, there are few case reports of older patients in previous literature. Read More

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http://dx.doi.org/10.1097/MD.0000000000013997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370171PMC
January 2019
13 Reads

Melorheostosis of The Leg: A Case Report.

J Radiol Case Rep 2018 Nov 30;12(11):12-17. Epub 2018 Nov 30.

Department of Radiology, King Fahad Hofuf Hospital, KSA.

Melorheostosis is a benign hyperostotic disease of the peripheral skeleton, rarely involving the axial skeleton. This disease is associated with ossified and non-ossified soft tissue masses surrounding the joints. We report the case of a 28-year-old male who presented to an orthopedic clinic with a chronic history of right leg pain. Read More

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http://dx.doi.org/10.3941/jrcr.v12i11.3539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312120PMC
November 2018

Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.

Arch Pediatr 2019 Feb 10;26(2):102-107. Epub 2019 Jan 10.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street ibn jazzar, 4000 Sousse, Tunisia.

Background And Objectives: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. Read More

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http://dx.doi.org/10.1016/j.arcped.2018.11.012DOI Listing
February 2019
2 Reads

Hyperphosphataemic tumoral calcinosis.

Lancet 2019 01;393(10167):168

Department of Orthopaedics, All India Institute of Medical Sciences, Bhopal, India.

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http://dx.doi.org/10.1016/S0140-6736(18)33045-9DOI Listing
January 2019
5 Reads
45.217 Impact Factor

SAPHO syndrome with enthesopathy.

BMJ Case Rep 2019 Jan 7;12(1). Epub 2019 Jan 7.

Division of Allergy, Immunology & Rheumatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome was first described as chronic recurrent multifocal osteomyelitis. Because of its rarity, a thorough description of its clinical manifestations is lacking. Herein, we describe the clinical manifestations and imaging features, especially the enthesopathy in bilateral Achilles tendons, of a middle-aged Asian woman with SAPHO syndrome, who improved after diclofenac treatment. Read More

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http://dx.doi.org/10.1136/bcr-2018-225929DOI Listing
January 2019
1 Read

X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.

Medicine (Baltimore) 2019 Jan;98(1):e13850

Department of Ultrasound.

Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients.

Patient Concerns: A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax by prenatal ultrasound examination at 24+5 weeks gestation. Read More

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http://dx.doi.org/10.1097/MD.0000000000013850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344186PMC
January 2019
2 Reads
5.723 Impact Factor

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.

Medicine (Baltimore) 2019 Jan;98(1):e13780

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

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Read More

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http://dx.doi.org/10.1097/MD.0000000000013780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344193PMC
January 2019
15 Reads
5.723 Impact Factor

Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study.

Orphanet J Rare Dis 2018 12 29;13(1):231. Epub 2018 Dec 29.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Background: Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, and recent data from questionnaire studies suggest that these may include increased risk for sleep apnea, a finding that lacks clinical evidence from cohort studies. In this cross-sectional study, 25 adults with OI underwent clinical otorhinolaryngology examination as well as overnight polysomnography to address the question. Read More

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http://dx.doi.org/10.1186/s13023-018-0971-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310950PMC
December 2018
3 Reads

Sagittal Spinopelvic Parameters in Children With Achondroplasia.

Spine Deform 2019 01;7(1):163-170

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA. Electronic address:

Study Design: Retrospective cross-sectional, longitudinal radiographic analysis.

Objective: To report the natural history of spinopelvic parameters in achondroplasia.

Summary Of Background Data: Sagittal spinal deformity is common in children with achondroplasia. Read More

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http://dx.doi.org/10.1016/j.jspd.2018.06.001DOI Listing
January 2019

Bone dysplasias in 1.6 million births in Argentina.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

National Network of Congenital Anomalies in Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health, Argentina. Electronic address:

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2018.12.008DOI Listing
December 2018
12 Reads
1.486 Impact Factor

Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports.

Medicine (Baltimore) 2018 Dec;97(50):e13644

Clinic of Oral Medicine and Orofacial Pain, Institute of Oral Health Science, Ajou University School of Medicine, Suwon, Korea (ROK).

Rationale: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dentofacial abnormalities and orofacial symptoms in SPENCD patients have been little discussed in the literature. Read More

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http://dx.doi.org/10.1097/MD.0000000000013644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320149PMC
December 2018
15 Reads

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.

Molecules 2018 Dec 11;23(12). Epub 2018 Dec 11.

Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory-IRCCS, Istituto Ortopedico Rizzoli, V. di Barbiano 1/10, 40136 Bologna, Italy.

Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters proper signaling networks leading to improper bone growth. Although recent studies demonstrated accumulation of HS in the cytoplasm of MO chondrocytes, nothing is known on the structural alterations which prevent HS from undergoing its physiologic pathway. In this work, osteochondroma (OC), peripheral chondrosarcoma, and healthy cartilaginous human samples were processed following a procedure previously set up to structurally characterize and compare HS from pathologic and physiologic conditions, and to examine the phenotypic differences that arise in the presence of either exostosin 1 or 2 ( or ) mutations. Read More

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http://dx.doi.org/10.3390/molecules23123277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321082PMC
December 2018
5 Reads

Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis.

Cell Stress Chaperones 2019 01 12;24(1):159-173. Epub 2018 Dec 12.

Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle Upon Tyne, NE1 3BZ, UK.

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER) resident protein that can be secreted due to an imperfect KDEL motif. MANF plays a cytoprotective role in several soft tissues and is upregulated in conditions resulting from intracellular retention of mutant protein, including two skeletal diseases, metaphyseal chondrodysplasia, Schmid type (MCDS) and multiple epiphyseal dysplasia (MED). The role of MANF in skeletal tissue homeostasis is currently unknown. Read More

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http://link.springer.com/10.1007/s12192-018-0953-7
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http://dx.doi.org/10.1007/s12192-018-0953-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363614PMC
January 2019
16 Reads

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.

BMC Med Genet 2018 Dec 12;19(1):212. Epub 2018 Dec 12.

Department of Pediatrics, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Ruijin 2nd Road 197, Shanghai, 200025, China.

Background: Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known laboratory assays do not meet the precision requirements for clinical diagnosis. Read More

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http://dx.doi.org/10.1186/s12881-018-0730-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292044PMC
December 2018
3 Reads

Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.

Psychiatr Genet 2019 04;29(2):57-60

Departments of Psychiatry.

Schizophrenia is a genetically complex disease that is related to neurodevelopmental abnormalities. Several genetic polymorphisms and genetic syndromes associated with neurodevelopmental processes have been linked to schizophrenia. In this case report, we present a case with an association between microcephalic osteodysplastic primordial dwarfism type II and schizophrenia. Read More

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http://dx.doi.org/10.1097/YPG.0000000000000214DOI Listing
April 2019
1 Read

Systemic Changes Affecting the Morphology of Calvarial Bone.

J Craniofac Surg 2019 Jan;30(1):e65-e75

Division of Plastic and Reconstructive Surgery, Department of Surgery, Mount Sinai Hospital.

Plastic surgeons are frequently consulted to evaluate concerns about a patient's skull. Imaging studies often reveal abnormalities in bone morphology, from increased porosity to sclerotic changes. While focal findings imply a benign or malignant neoplasm, the etiology of more diffuse findings can be more varied, making the correct diagnosis challenging. Read More

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http://Insights.ovid.com/crossref?an=00001665-900000000-9516
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http://dx.doi.org/10.1097/SCS.0000000000004991DOI Listing
January 2019
20 Reads

An Infant With Neonatal Diabetes and Double Outlet Right Ventricle - Wolcott- Rallison syndrome.

Med Arch 2018 Oct;72(4):289-291

Institution for Emergency Medicine, Sarajevo, Bosnia and Herzegovina.

Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate. Read More

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https://www.ejmanager.com/fulltextpdf.php?mno=302643302
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http://dx.doi.org/10.5455/medarh.2018.72.289-291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195015PMC
October 2018
13 Reads

Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature.

Orphanet J Rare Dis 2018 12 4;13(1):217. Epub 2018 Dec 4.

Department of Oral and Craniomaxillofacial Science, Shanghai Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, No 500, Quxi Road, Shanghai, Shanghai, China.

Objectives: To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the surgical-orthodontic treatment experience of cleidocranial dysplasia.

Methods: A comprehensive search for studies published through to April 10, 2018 was conducted using the Pubmed, Web of Science, and Embase databases. The CCD cases treated with the approach combining surgical exposure and orthodontic treatment were concluded. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0959-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280340PMC
December 2018
2 Reads

Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.

Eur J Pediatr 2019 Mar 29;178(3):323-329. Epub 2018 Nov 29.

Third Department of Pediatrics, National and Kapodistrian University of Athens, "Attikon" University General Hospital, Athens, Greece.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Read More

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http://dx.doi.org/10.1007/s00431-018-3299-3DOI Listing
March 2019
2 Reads

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia.

BMC Musculoskelet Disord 2018 Nov 29;19(1):417. Epub 2018 Nov 29.

Department of Orthopaedic Surgery and Institute for Rare Diseases, Korea University Medical Center, Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 152-703, Republic of Korea.

Background: Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients. The purpose of this study was to analyze sustained hip flexion contracture in achondroplasia patients who underwent femoral lengthening and to identify contributing factors.

Methods: This study included 34 patients with achondroplasia who underwent femoral lengthening (mean age at operation, 11. Read More

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http://dx.doi.org/10.1186/s12891-018-2344-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267876PMC
November 2018
2 Reads

[McCune-Albright syndrome with hyperthyroidism: report of one case and review of literature].

Shanghai Kou Qiang Yi Xue 2018 Aug;27(4):445-448

Department of Stomatology, Central Hospital of Xuzhou City. Xuzhou 221009, Jiangsu Province, China.

McCune-Albright Syndrome(MAS) is a rare disease characterized by triad of polyostotic fibrous dysplasia of bone(FD), precocious puberty, and café-au-lait skin pigmentation. This paper reported a case of McCune-Albright syndrome with hyperthyroidism, and discussed the pathogenesis, clinical manifestations, diagnosis and treatment of MAS. Read More

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August 2018
15 Reads

A quantitative description of self-selected walking in adults with Achondroplasia using the gait profile score.

Gait Posture 2019 02 16;68:150-154. Epub 2018 Nov 16.

Health, Exercise and Active Living Research, Manchester Metropolitan University, United Kingdom.

Background: Achondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls). Previous work shows gait kinematics of individuals with Achondroplasia differing to controls, but no global quantification of gait has been made in adults with Achondroplasia.

Aim: The aim of this study was to quantify gait differences between a group of adult males with Achondroplasia and controls during self-selected walking (SSW) using the Gait Profile Score (GPS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09666362183050
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http://dx.doi.org/10.1016/j.gaitpost.2018.11.019DOI Listing
February 2019
19 Reads

[Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis].

Yi Chuan 2018 Nov;40(11):1015-1023

CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.

The next generation sequencing (NGS) technology has been playing important roles in genetic diagnosis of diseases in recent years, and serving as a technological basis of precision medicine. In analyzing NGS data, the variant annotation is an important step. In this study, we developed a computationally efficient software (BIG-Annotator) to perform functional annotation for whole-genome single nucleotide polymorphisms. Read More

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http://dx.doi.org/10.16288/j.yczz.18-274DOI Listing
November 2018

Chondroectodermal Syndrome.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

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January 2019
3 Reads

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Ital J Pediatr 2018 Nov 20;44(1):138. Epub 2018 Nov 20.

Division of Pediatric Endocrinology, Meyer University Children's Hospital, University of Florence, Florence, Italy.

Background: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity.

Case Presentation: We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Read More

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http://dx.doi.org/10.1186/s13052-018-0580-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245908PMC
November 2018
3 Reads

A man with facial disfigurement.

Pan Afr Med J 2018;30:196. Epub 2018 Jul 5.

Excellence Center in Diabetes, Hormones and Metabolism, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.11604/pamj.2018.30.196.16299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235515PMC
December 2018
4 Reads

Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome.

Ital J Pediatr 2018 Nov 19;44(1):136. Epub 2018 Nov 19.

Department of Human Pathology in Adulthood and Childhood, University of Messina, Via Consolare Valeria, 98124, Messina, Italy.

Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP. Read More

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http://dx.doi.org/10.1186/s13052-018-0577-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245937PMC
November 2018
3 Reads

Sclerosing bone dysplasias.

Best Pract Res Clin Endocrinol Metab 2018 10 18;32(5):707-723. Epub 2018 Jun 18.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups. Read More

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http://dx.doi.org/10.1016/j.beem.2018.06.003DOI Listing
October 2018

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

J Biomed Sci 2018 Nov 17;25(1):82. Epub 2018 Nov 17.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, Post code 45320, Pakistan.

Introduction: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise activity of the osteoblasts leading to disturbed bone mass accrual, fragility fractures and progressive skeletal abnormalities. Read More

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https://jbiomedsci.biomedcentral.com/articles/10.1186/s12929
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http://dx.doi.org/10.1186/s12929-018-0481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240425PMC
November 2018
11 Reads

Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

Orphanet J Rare Dis 2018 11 16;13(1):207. Epub 2018 Nov 16.

Children's Hospital, Pediatric Research Center, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

Background: Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologic and reproductive health is unknown. Vulnerability to genital infections may predispose CHH patients to prolonged human papillomavirus (HPV) infections potentially leading to cervical, vaginal and vulvar cancer. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0945-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240206PMC
November 2018
12 Reads

Mosaic Effects of Growth Hormone on Fibrous Dysplasia of Bone.

N Engl J Med 2018 11;379(20):1964-1965

National Institutes of Health, Bethesda, MD

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http://dx.doi.org/10.1056/NEJMc1808583DOI Listing
November 2018
42 Reads

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias. We report on two new patients with rMED and very rare compound heterozygous mutation combinations in non-consanguineous families. Patient I presented in childhood with waddling gait and joint stiffness. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183018
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http://dx.doi.org/10.1016/j.ejmg.2018.11.007DOI Listing
November 2018
24 Reads

Clinical and radiological findings in a severe case of cleidocranial dysplasia.

BMJ Case Rep 2018 Nov 12;2018. Epub 2018 Nov 12.

Division of Oral and Maxillofacial Radiology, Department of Diagnostic Sciences, Rutgers School of Dental Medicine, Newark, New Jersey, USA.

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22667
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http://dx.doi.org/10.1136/bcr-2018-226671DOI Listing
November 2018
18 Reads

The results of osteotomy at the base of femoral neck with osteoplasty in restoration of abductor function and strength in slipped capital femoral epiphysis.

Bone Joint J 2018 Nov;100-B(11):1524-1532

Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil; Department of Biomechanics, Medicine and Rehabilitation of the Locomotor System, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.

Aims: The aims of this study were to evaluate the abductor function in moderate and severe slipped capital femoral epiphysis (SCFE), comparing the results of a corrective osteotomy at the base of the femoral neck and osteoplasty with 1) in situ epiphysiodesis for mild SCFE, 2) contralateral unaffected hips, and 3) hips from healthy individuals.

Patients And Methods: A total of 24 patients (mean age 14.9 years (sd 1. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/0301-620X.100
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http://dx.doi.org/10.1302/0301-620X.100B11.BJJ-2018-0273.R1DOI Listing
November 2018
21 Reads

Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.

Clin Chim Acta 2019 Feb 5;489:21-28. Epub 2018 Nov 5.

Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address:

Background: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by low bone mass and recurrent fractures. OI patients of autosomal recessive inheritance are extremely rare, of which OI type XIII is attributable to mutation in BMP1 gene.

Case Report: Here, we detect the pathogenic mutations and analyze their relation to the phenotypes in a Chinese family with OI using next-generation sequencing (NGS) and Sanger sequencing. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183057
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http://dx.doi.org/10.1016/j.cca.2018.11.004DOI Listing
February 2019
16 Reads

Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?

J Craniofac Surg 2019 Jan;30(1):110-114

Oxford Craniofacial Unit.

Pycnodysostosis (PYCD) is a rare autosomal-recessive skeletal disorder that typically presents with osteosclerosis of the majority of the postcranial skeleton and osteolysis of the calvarium, manifesting as persistent open cranial fontanelles and widely spaced cranial sutures. Craniosynsostosis in PYCD is a somewhat paradoxical feature, and has only been rarely reported. The authors present a unique case of a 6-year-old girl with PYCD, multisuture craniosynostosis involving the coronal and sagittal sutures, severe obstructive sleep apnoea, and raised intracranial pressure presenting as papilledema. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004870DOI Listing
January 2019
21 Reads