ALLMedicine™ Spondyloepiphyseal Dysplasia Center
Research & Reviews 71 results
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...
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 ...
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...
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...
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...