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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
Author(s) -
Tsirikos Athanasios I.,
Mason Dan E.,
Scott Charles I.,
Chang WeiNing
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20061
Subject(s) - medicine , dysplasia , dwarfism , orthopedic surgery , genetic disorder , osteochondrodysplasia , radiography , joint hypermobility , surgery , anatomy , gene , biochemistry , chemistry , disease
Abstract Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. We report on a patient with SEMDJL, who presented with all the characteristic orthopedic manifestations of the disorder, required multiple operative procedures, and has the longest reported follow‐up and survival into adulthood with a favorable outcome. We describe all the clinical and radiographic findings that can allow an early diagnosis of this type of skeletal dysplasia, which can lead to profound disability with potentially lethal spinal and pulmonary complications in early childhood. In view of the severe clinical and genetic implications, diagnostic precision is of vital importance, particularly since the disorder is currently believed to be more common than initially reported. © 2003 Wiley‐Liss, Inc.