×
About 183 results

ALLMedicine™ Spondyloepiphyseal Dysplasia Center

Research & Reviews  71 results

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL...
https://doi.org/10.1002/mgg3.1781
Molecular Genetics & Genomic Medicine; Wu H, Che S et. al.

Aug 19th, 2021 - Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palat...

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationali...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240210
BMC Medical Genomics; Wu K, Li Z et. al.

Jun 30th, 2021 - Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogenic gene. Hearing ...

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
https://doi.org/10.1002/ajmg.a.62236
American Journal of Medical Genetics. Part A; Nguyen DB, Khirani S et. al.

Apr 29th, 2021 - Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with s...

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982231
Medicine Zhang L, Wang J et. al.

Mar 18th, 2021 - X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic vari...

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese fam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059726
Journal of Clinical Laboratory Analysis; Zhou T, Yang X et. al.

Feb 17th, 2021 - Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other feat...

see more →

Patient Education  2 results see all →