843 results match your criteria Imaging in Achondroplasia


Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.

Am J Med Genet A 2020 Jun 11. Epub 2020 Jun 11.

Maxine Dunitz Neurosugical Institute-Department of Neurological Surgery, Cedars-Sinai Medial Center, Los Angeles, California, USA.

The role of cervicomedullary decompression (CMD) in the care of hydrocephalic achondroplastic children who present with simultaneous foramen magnum stenosis is not well understood. We sought to determine the percentage of symptomatic achondroplastic children with foramen magnum stenosis who had stabilization or improvement in ventriculomegaly following CMD. The authors retrospectively reviewed the records of pediatric patients at Cedars-Sinai Medical Center with achondroplasia and signs of progressive ventriculomegaly who underwent CMD for symptomatic foramen magnum stenosis between the years 2000 and 2018. Read More

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http://dx.doi.org/10.1002/ajmg.a.61640DOI Listing

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Orphanet J Rare Dis 2020 May 25;15(1):123. Epub 2020 May 25.

Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Background: Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-based studies exist currently. Read More

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http://dx.doi.org/10.1186/s13023-020-01397-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249360PMC

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia.

Sci Rep 2020 Mar 13;10(1):4699. Epub 2020 Mar 13.

Université de Paris, BIOSCAR Inserm U1132 and Department of Rheumatology and Reference Center for Constitutional Bone Diseases, AP-HP Hospital Lariboisière, F-75010, Paris, France.

In achondroplasia, lumbar spinal stenosis arises from congenital dysplasia and acquired degenerative changes. We here aimed to describe the changes of the lumbar spinal canal and intervertebral disc in adults. We included 18 adults (age ≥ 18 years) with achondroplasia and lumbar spinal stenosis. Read More

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http://dx.doi.org/10.1038/s41598-020-61704-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7070089PMC

Macrocerebellum in Achondroplasia: A Further CNS Manifestation of Mutations?

AJNR Am J Neuroradiol 2020 02 19;41(2):338-342. Epub 2019 Dec 19.

From the Departments of Medical Imaging (H.M.P., A.M.F., S.K.).

Achondroplasia is the result of a mutation in the gene (). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. Read More

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http://dx.doi.org/10.3174/ajnr.A6369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015212PMC
February 2020

Neurological Manifestations of Achondroplasia.

Curr Neurol Neurosci Rep 2019 11 28;19(12):105. Epub 2019 Nov 28.

Neurology and Pediatrics, Mayo Clinic School of Medicine, Rochester, USA.

Purpose Of Review: This review is to delineate the neurological complications seen in patients with achondroplasia.

Recent Findings: As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified. Achondroplasia is a hereditary short-limbed dwarfism which has been known for millennia. Read More

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http://dx.doi.org/10.1007/s11910-019-1008-xDOI Listing
November 2019

Fetal magnetic resonance imaging of skeletal dysplasias.

Pediatr Radiol 2020 02 27;50(2):224-233. Epub 2019 Nov 27.

Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229, USA.

Background: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.

Objective: The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.

Materials And Methods: This retrospective study was approved by the institutional review board; informed consent was waived. Read More

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http://dx.doi.org/10.1007/s00247-019-04537-8DOI Listing
February 2020

Acute Implant-related Complications in Pediatric Cervical Spine Fusion.

J Pediatr Orthop 2019 Nov 14. Epub 2019 Nov 14.

Department of Orthopaedic Surgery.

Background: The use of modern rigid instrumentation in pediatric cervical fusions decreases the risk of implant-related complications, both acute and long term. However, previous studies have indicated that acute implant-related issues still occur in the adult population. Reports of pediatric acute implant complications, occurring within 3 months of surgery, are under-represented in the literature. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001471DOI Listing
November 2019

Results through skeletal maturity of planned fibular nonunion for the treatment of genu varum in achondroplasia: An observational retrospective study.

Medicine (Baltimore) 2019 Nov;98(44):e17723

Department of Orthopaedics, Akron Children's Hospital, Akron.

Current surgical options for treating genu varum in achondroplasia include tibial and fibular osteotomy and growth modulation using plates and screws. However, a single surgeon consistently treated genu varum using a planned fibular nonunion (PFN). The purpose of this study is to describe his surgical technique and report radiographic and clinical outcomes for the cohort studied. Read More

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http://dx.doi.org/10.1097/MD.0000000000017723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946350PMC
November 2019

Computed tomography lung volume estimation to facilitate protective mechanical ventilation in a patient with achondroplasia and spina bifida.

Anaesth Intensive Care 2019 Sep 7;47(5):474-475. Epub 2019 Sep 7.

Division of Critical Care Medicine, Department of Anesthesiology, Cooper Medical School of Rowan University, Cooper University Hospital, Camden, USA.

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http://journals.sagepub.com/doi/10.1177/0310057X19873003
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http://dx.doi.org/10.1177/0310057X19873003DOI Listing
September 2019
1 Read

Thoracic spine Langerhans cell histiocytosis in a child with achondroplasia.

BMJ Case Rep 2019 Jul 24;12(7). Epub 2019 Jul 24.

Paediatric Neurosurgery, Royal Hospital for Sick Children, Edinburgh, UK.

Multifocal bone Langerhans cell histiocytosis (LCH) is usually treated with prednisolone and vinblastine. We present a case conservatively treated with indomethacin with good clinical and radiological response. A 7-year-old achondroplastic boy presented with worsening thoracic back pain and leg weakness. Read More

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http://dx.doi.org/10.1136/bcr-2018-228801DOI Listing
July 2019
5 Reads

TransCon CNP, a Sustained-Release C-Type Natriuretic Peptide Prodrug, a Potentially Safe and Efficacious New Therapeutic Modality for the Treatment of Comorbidities Associated with Fibroblast Growth Factor Receptor 3-Related Skeletal Dysplasias.

J Pharmacol Exp Ther 2019 09 24;370(3):459-471. Epub 2019 Jun 24.

Ascendis Pharma A/S, Hellerup, Denmark (V.M.B., C.E.R., P.H.M., M.K.-H.); and Ascendis Pharma GmbH, Heidelberg, Germany (F.F., A.B., J.Z., U.H.).

TransCon CNP is a C-type natriuretic peptide (CNP-38) conjugated via a cleavable linker to a polyethylene glycol carrier molecule, designed to provide sustained systemic CNP levels upon weekly subcutaneous administration. TransCon CNP is in clinical development for the treatment of comorbidities associated with achondroplasia. In both mice and cynomolgus monkeys, sustained exposure to CNP via TransCon CNP was more efficacious in stimulating bone growth than intermittent CNP exposure. Read More

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http://dx.doi.org/10.1124/jpet.119.258251DOI Listing
September 2019
10 Reads

Foramen Magnum Stenosis and Spinal Cord Compression in Achondroplasia.

Anesthesiology 2019 Aug;131(2):396

From the Departments of Anesthesia (M.S.O., M.M.) Radiology (U.D.N.), Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.

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http://dx.doi.org/10.1097/ALN.0000000000002757DOI Listing
August 2019
17 Reads

Whole-body and segmental analysis of body composition in adult males with achondroplasia using dual X-ray absorptiometry.

PLoS One 2019 19;14(3):e0213806. Epub 2019 Mar 19.

Health, Exercise and Active Living Research, Manchester Metropolitan University, Manchester, England.

Achondroplasia is a condition characterized by a genetic mutation affecting long bone endplate development. Current data suggests that the bone mineral content (BMC) and bone mineral density (BMD) of achondroplasic populations are below age matched individuals of average stature (controls). Due to the disproportionate limb-to-torso length compared to controls however, the lower BMC and BMD may be nullified when appropriately presented. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0213806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424418PMC
December 2019
5 Reads

Ossification of the Ligamentum Flavum at the Thoracic and Lumbar Region in an Achondroplastic Patient.

World Neurosurg 2019 Jun 13;126:461-465. Epub 2019 Mar 13.

Department of Orthopedics and Traumatology, Istinye University Medical Faculty, Istanbul, Turkey.

Background: Achondroplasia, a genetic disorder of bone growth, produces specific clinical features of the extremities and spine. Spinal stenosis, seen in patients with achondroplasia, is a congenital disorder related to premature fusion of the pedicles to the lamina. It can be caused by ossification of the ligamentum flavum, which is rare in patients with achondroplasia. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.028DOI Listing
June 2019
7 Reads
2.417 Impact Factor

An Adult Case of Pulmonary Artery Sling Accompanied by Tracheobronchomalacia.

Intern Med 2019 Jun 1;58(11):1621-1624. Epub 2019 Feb 1.

Department of Respiratory Medicine, National Hospital Organization Tokyo Medical Center, Japan.

Pulmonary artery (PA) sling is a congenital disease in which the left PA abnormally arises from the right PA and is usually diagnosed during the infantile period. We present an adult case of PA sling accompanied by tracheobronchomalacia found in a 49-year-old woman with a history of recurrent pneumonia. Computed tomography of the chest showed that the left lung was nourished by two aberrant PAs. Read More

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http://dx.doi.org/10.2169/internalmedicine.2089-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599931PMC
June 2019
18 Reads

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Nat Med 2019 03 28;25(3):439-447. Epub 2019 Jan 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus. However, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence. Here we report on the development and validation of, and early clinical experience with, a new approach for non-invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases. Read More

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http://www.nature.com/articles/s41591-018-0334-x
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http://dx.doi.org/10.1038/s41591-018-0334-xDOI Listing
March 2019
48 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
3 Reads

Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience.

Musculoskelet Surg 2019 Dec 10;103(3):257-262. Epub 2018 Dec 10.

ICATME, Hospital Universitari Quiron-Dexeus, Carrer Sabino de Arana, 5-19, 08028, Barcelona, Spain.

Background: Elongation in patients with achondroplasia provides better overall skeletal proportionality and significantly improves such individuals' access to their perineal region to self-manage personal hygiene. This paper describes our surgical technique and outcomes for bilateral humeral lengthening in achondroplasia patients over 26 years.

Methods: Ours was a retrospective study of 55 patients with achondroplasia-related short stature, in whom bilateral humeral lengthening was performed from 1990 to 2016. Read More

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http://dx.doi.org/10.1007/s12306-018-0583-3DOI Listing
December 2019
9 Reads

Neonatal lethal hypophosphatasia: A case report and review of literature.

Medicine (Baltimore) 2018 Nov;97(48):e13269

Neonatal Service, Metabolic Unit, Department of Pediatrics, Santiago de Compostela University Hospital, IDIS (Health Research Institute of Santiago de Compostela), Ciberer, Spain.

Rationale: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival.

Patient Concerns: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130PMC
November 2018
18 Reads

Mesenchymal stem cells as adjuvant therapy for limb lengthening in achondroplasia.

J Pediatr Orthop B 2019 May;28(3):221-227

IV Division of Orthopaedics and Traumatology, 'Gaetano Pini' Orthopaedic Institute.

Staged leg lengthening allows achondroplastic dwarfs to reach nearly normal height, but it takes long periods of external fixation and it can be burdened by delayed unions. Between 2009 and 2013, eight achondroplastic dwarfs showed delayed unions in the callus formation during femoral lengthening stages in our institute. We performed in-situ injections of bone marrow-derived stem cell concentrates. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000571DOI Listing
May 2019
46 Reads

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

Eur J Med Genet 2019 Nov 10;62(11):103573. 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 2019
43 Reads

Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.

Childs Nerv Syst 2018 11 29;34(11):2275-2281. Epub 2018 Jun 29.

Department of Neurosurgery, Brain Research Institute, University of Niigata, 1-757, Asahimachi-dori, Chuo-ku,, Niigata City, Niigata, 951-8585, Japan.

Objective: Management of cervicomedullary compression due to foramen magnum stenosis in achondroplasia remains controversial, especially for patients with no symptoms or mild symptoms. We examined the effectiveness of polysomnography (PSG) as an indicator for cervicomedullary decompression treatment.

Methods: We retrospectively reviewed nine achondroplasia cases (mean age 1 year and 9 months) treated from 2008 to 2015. Read More

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http://link.springer.com/10.1007/s00381-018-3880-0
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http://dx.doi.org/10.1007/s00381-018-3880-0DOI Listing
November 2018
24 Reads

Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

Med Princ Pract 2018 21;27(5):451-458. Epub 2018 Jun 21.

Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

Objective: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders.

Design: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Read More

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https://www.karger.com/Article/FullText/491391
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http://dx.doi.org/10.1159/000491391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244108PMC
April 2019
19 Reads

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Otol Neurotol 2018 07;39(6):732-738

Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem.

Objectives: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing.

Study Design: Retrospective case review.

Setting: Tertiary referral center. Read More

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http://dx.doi.org/10.1097/MAO.0000000000001847DOI Listing
July 2018
34 Reads

Safety of Dynamic Magnetic Resonance Imaging of the Cervical Spine in Children Performed without Neurosurgical Supervision.

World Neurosurg 2018 Aug 5;116:e1188-e1193. Epub 2018 Jun 5.

Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah, USA.

Objective: The need for neurosurgical supervision as well as the general safety and utility of dynamic magnetic resonance imaging (MRI) of the cervical spine in children remains controversial. We present the largest descriptive cohort study of cervical flexion-extension MRI scans in pediatric patients to help elucidate the safety and utility of this technique.

Methods: We retrospectively reviewed all cervical spine MRI scans performed at Lucile Packard Children's Hospital at Stanford from 2009 to 2015. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183116
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http://dx.doi.org/10.1016/j.wneu.2018.05.210DOI Listing
August 2018
62 Reads

Changes in the range of motion of the lower limb joints during extensive tibial lengthening in achondroplasia.

J Pediatr Orthop B 2018 Nov;27(6):535-540

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Increase in the magnitude of lengthening during the limb lengthening procedure involves a high risk of decreased range of motion (ROM) in adjacent joints. Even though patients with achondroplasia can tolerate a relatively larger amount of lengthening owing to its inherent soft-tissue laxity, they often exhibit significant joint contractures during extensive lengthening. In the present study, we evaluated temporal changes in the ROM of the hip, knee, and ankle joints throughout the treatment period in 12 limbs of six patients with achondroplasia who had undergone extensive tibial lengthening. Read More

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http://Insights.ovid.com/crossref?an=01202412-201811000-0001
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http://dx.doi.org/10.1097/BPB.0000000000000526DOI Listing
November 2018
58 Reads

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Genet Med 2019 02 5;21(2):459-463. Epub 2018 Jun 5.

Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Professor of Pediatrics, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA.

Purpose: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia.

Methods: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients. Read More

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http://www.nature.com/articles/s41436-018-0070-0
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http://dx.doi.org/10.1038/s41436-018-0070-0DOI Listing
February 2019
54 Reads

New subtype of familial achondrogenesis type IA (Houston-Harris).

Cir Cir 2018 ;86(1):89-98

Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Jal. México.

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. Read More

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http://dx.doi.org/10.24875/CIRU.M18000008DOI Listing
November 2018
12 Reads

Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.

Am J Med Genet A 2018 05;176(5):1225-1231

Médico Residente de Genética Médica, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México.

Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. Only four patients with confirmed molecular diagnoses have been reported to date, and the phenotype has not been fully defined. Here, we describe a Mexican patient with a confirmed molecular diagnosis of ACH-HCH complex. Read More

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http://dx.doi.org/10.1002/ajmg.a.38660DOI Listing
May 2018
30 Reads

The champagne glass pelvis.

Abdom Radiol (NY) 2018 11;43(11):3190-3191

Department of Radiology, Wake Forest Baptist Medical Center, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC, 27157, USA.

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http://dx.doi.org/10.1007/s00261-018-1568-2DOI Listing
November 2018
2 Reads

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

Congenit Anom (Kyoto) 2019 Jan 15;59(1):4-10. Epub 2018 Apr 15.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.

Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. Read More

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http://doi.wiley.com/10.1111/cga.12278
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http://dx.doi.org/10.1111/cga.12278DOI Listing
January 2019
44 Reads

Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring.

Int J Paleopathol 2018 03 14;20:65-71. Epub 2017 Dec 14.

The University of Western Ontario, Department of Anthropology, N6A-3K7, London, Canada; Leiden University, Faculty of Archaeology, Laboratory for Human Osteoarchaeology, Postbus 9514, 2300RA, Leiden, The Netherlands.

A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Read More

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http://dx.doi.org/10.1016/j.ijpp.2017.12.002DOI Listing
March 2018
39 Reads

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.

Taiwan J Obstet Gynecol 2018 Feb;57(1):119-122

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.

Case Report: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus. Read More

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http://dx.doi.org/10.1016/j.tjog.2017.12.020DOI Listing
February 2018
18 Reads

The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients With Achondroplasia.

Spine (Phila Pa 1976) 2018 08;43(16):1133-1138

Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.

Study Design: A retrospective study.

Objectives: The aim of this study was to evaluate the outcome of brace treatment in the correction of thoracolumbar kyphosis (TLK) for patients with achondroplasia and to determine the factors associated with bracing efficacy.

Summary Of Background Data: Brace treatment has been used to correct TLK in patients with achondroplasia. Read More

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http://dx.doi.org/10.1097/BRS.0000000000002586DOI Listing
August 2018
27 Reads

Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis.

Ultrasound Obstet Gynecol 2019 Jan 28;53(1):87-94. Epub 2018 Nov 28.

Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, Clamart, France.

Objectives: To assess the performance of non-invasive prenatal testing (NIPT) for achondroplasia using high-resolution melting (HRM) analysis, and to propose an optimal diagnostic strategy combining ultrasound examination and cell-free fetal DNA (cffDNA) analysis.

Methods: In this prospective multicenter study, cffDNA was extracted from blood of pregnant women at risk for fetal achondroplasia (owing to paternal achondroplasia, previous affected child or suspected rhizomelic shortening) and of pregnant low-risk controls. The presence of either one of the two main fibroblast growth factor receptor 3 gene (FGFR3) mutations was determined using HRM combined with confirmation by SNaPshot minisequencing. Read More

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http://doi.wiley.com/10.1002/uog.19018
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http://dx.doi.org/10.1002/uog.19018DOI Listing
January 2019
28 Reads

Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging.

Sci Rep 2018 01 11;8(1):469. Epub 2018 Jan 11.

Rare Diseases, Sanofi, 49 New York Avenue, Framingham, MA, 01701, USA.

Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. Read More

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http://www.nature.com/articles/s41598-017-18801-0
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http://dx.doi.org/10.1038/s41598-017-18801-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765052PMC
January 2018
35 Reads

Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report.

Medicine (Baltimore) 2017 Dec;96(49):e8983

Department of Orthopaedic Surgery, Oita University, Oita, Japan.

Rationale: Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia.

Patient Concerns: A 61-year-old man with a history of achondroplastic dwarfism presented with low back pain and radiculopathy and neurogenic claudication. Read More

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http://dx.doi.org/10.1097/MD.0000000000008983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728885PMC
December 2017
62 Reads

Osteomyelitis Variolosa, A Differential Diagnosis of a Multifaceted Condition.

J Clin Rheumatol 2017 Dec;23(8):453

Division of Musculoskeletal and Rheumatic Diseases Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra Mexico City, Mexico Division of Musculoskeletal and Rheumatic Diseases Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra Mexico City, Mexico.

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http://dx.doi.org/10.1097/RHU.0000000000000593DOI Listing
December 2017
5 Reads

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with Related Skeletal Dysplasias.

AJNR Am J Neuroradiol 2018 02 23;39(2):380-384. Epub 2017 Nov 23.

From the Departments of Medical Imaging (S.A. Manikkam, A.M.F., S.A. Mandelstam).

Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the () group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5468
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http://dx.doi.org/10.3174/ajnr.A5468DOI Listing
February 2018
28 Reads

Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy.

J Emerg Med 2017 Oct;53(4):558-562

Department of Emergency Medicine, University of Louisville School of Medicine, Louisville, Kentucky.

Background: Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07364679173046
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http://dx.doi.org/10.1016/j.jemermed.2017.04.037DOI Listing
October 2017
18 Reads

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Hum Mol Genet 2018 01;27(1):1-13

INSERM U1163, Institut Imagine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth anomalies have been identified in skeletal ciliopathies, in which primary cilia (PC) function is disrupted. Read More

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http://academic.oup.com/hmg/article/27/1/1/4344808
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http://dx.doi.org/10.1093/hmg/ddx374DOI Listing
January 2018
20 Reads

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Radiographics 2017 Oct;37(6):1813-1830

From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (K.M.S.); Department of Radiology, University of Texas Health Science Center San Antonio, San Antonio, Tex (A.K.S.); and Department of Radiology, University of Iowa College of Medicine, Iowa City, Iowa (S.C.K.).

Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Read More

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http://dx.doi.org/10.1148/rg.2017170017DOI Listing
October 2017
13 Reads

A Three-Dimensional Study of Midfacial Changes Following Le Fort II Distraction With Zygomatic Repositioning in Syndromic Patients.

J Craniofac Surg 2017 Nov;28(8):e728-e731

*Department of Plastic Surgery, University of Texas Southwestern †Division of Plastic Surgery, Children's Health, Dallas, TX.

Le Fort II distraction with zygomatic repositioning introduced the ability to restore central midfacial height and convexity independent of changes in orbital morphology. This study analyzes midfacial and orbital morphology before and after Le Fort II distraction with zygomatic repositioning.All patients who underwent Le Fort II Distraction with zygomatic repositioning between 2013 and 2015 were included. Read More

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http://dx.doi.org/10.1097/SCS.0000000000003869DOI Listing
November 2017
16 Reads

Sinus pericranii in achondroplasia: a case report and review of the literature.

Clin Dysmorphol 2017 Oct;26(4):252-255

aDepartment of Medical and Molecular Genetics bDivision of Pediatric Neurosurgery, Goodman Campbell Brain and Spine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000196DOI Listing
October 2017
14 Reads

Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report.

Orthop Traumatol Surg Res 2017 11 5;103(7):1127-1130. Epub 2017 Aug 5.

Orthopaedic Department, AZ Monica Hospital, Deurner, Belgium.

Skeletal dysplasia in achondroplasia can affect all body joints - including the glenohumeral joint - and is prone to develop to degenerative osteoarthritis (OA). This may cause pain and mobility problems at young age. Surgical treatment is challenging due to the dysplastic anatomy of the shoulder joint - with a dysplastic deformed short humerus, a small, hypoplastic medialized glenoid and lateralized acromion - and the long life expectancy of these patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18770568173020
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http://dx.doi.org/10.1016/j.otsr.2017.07.004DOI Listing
November 2017
52 Reads

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia.

Neuroradiology 2017 Oct 17;59(10):1031-1041. Epub 2017 Aug 17.

Polo scienze delle immagini, di laboratorio ed infettivologiche, Area diagnostica per immagini, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, L.go F. Vito 1, 00168, Roma, Italia.

Purpose: We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression.

Methods: We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume. Read More

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http://dx.doi.org/10.1007/s00234-017-1887-yDOI Listing
October 2017
55 Reads

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.

Authors:
Sarah M Nikkel

Curr Osteoporos Rep 2017 10;15(5):419-424

Provinical Medical Genetics Program, BC Women's Hospital and Health Centre, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

Purpose Of Review: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options.

Recent Findings: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. Read More

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http://dx.doi.org/10.1007/s11914-017-0392-xDOI Listing
October 2017
19 Reads

Activated FGFR3 promotes bone formation via accelerating endochondral ossification in mouse model of distraction osteogenesis.

Bone 2017 Dec 10;105:42-49. Epub 2017 Aug 10.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Japan.

Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. Distraction osteogenesis (DO) is a treatment option for short stature in ACH in some countries. Although the patients with ACH usually show faster healing in DO, details of the newly formed bone have not been examined. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282173018
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http://dx.doi.org/10.1016/j.bone.2017.05.016DOI Listing
December 2017
18 Reads

Pelvic radiograph in skeletal dysplasias: An approach.

Indian J Radiol Imaging 2017 Apr-Jun;27(2):187-199

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_367_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510317PMC
July 2017
17 Reads

Growth Modulation in Achondroplasia.

J Pediatr Orthop 2017 Sep;37(6):e384-e387

Texas Scottish Rite Hospital, Dallas, TX.

Introduction: Achondroplasia is the most common skeletal dysplasia with a rate of nearly 1/10,000. The development of lower extremity deformity is well documented, and various modes of correction have been reported. There are no reports on the use of growth modulation to correct angular deformity in achondroplasia. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001045DOI Listing
September 2017
6 Reads