Spondyloepimetaphyseal dysplasia with multiple joint dislocations
نویسندگان
چکیده
منابع مشابه
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long b...
متن کاملSpondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance.
Three additional patients, including a father and daughter, with spondyloepimetaphyseal dysplasia and multiple dislocations are presented. This is the first report of dominant inheritance, with variable intrafamilial expressivity of this disorder. All patients showed facial dysmorphism with a short, broad, upturned nose. There were striking epiphyseal and metaphyseal changes of the long bones a...
متن کاملBGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missen...
متن کاملRough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities.
Iliac crest growth cartilage biopsy in spondyloepimetaphyseal dysplasia (SEMD) showed an endoplasmic reticulum storage disorder of epiphyseal and physeal chondrocytes. Biochemical analyses of iliac crest cartilage extracellular matrix showed no signs of deficits in any of the structural collagens types II, IX, or XI. The physis was abnormal by light microscopy with chondrocyte columnation repla...
متن کاملLateral release for recurrent dislocation of the patella.
We reviewed 41 knees after arthroscopic lateral release for recurrent dislocation of the patella at a mean follow-up of four years, and graded the results according to the criteria of Crosby and Insall (1976). There were no dislocations after operation in 28 knees (68%); the less satisfactory results were in patients with subluxation of the patella on extension of the knee and those with genera...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200001000-00138