Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
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.
Tsirikos
Athanasios I
AI
Department of Orthopedics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA.
Mason
Dan E
DE
Scott
Charles I
CI
Chang
Wei-Ning
WN
D000328:Adult; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000150:complications* / Q000175:diagnosis; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D012600:Scoliosis / Q000150:complications* / Q000175:diagnosis