Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance
نویسندگان
چکیده
منابع مشابه
Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.
Fifteen patients with an inherited skeletal dysplasia which is considerably more crippling than the usual form of spondylo-epiphysial dysplasia tarda are presented. The disorder has a striking clinical, though not radiological, resemblance to rheumatoid arthritis but with the addition of platyspondyly. It has not previously been described, although it is possible that the case referred to by Ma...
متن کاملSpondyloepiphyseal dysplasia tarda with progressive arthropathy.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive deformity of the joints. She had a short stature with increased thoracic kyphosis and lumbar lordosis. The r...
متن کاملA Case Report of Schimke Immuno-Osseous Dysplasia: A Rare Autosomal Recessive Disorder
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...
متن کاملSpondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, as it enables more precise counselling in families in which sporadic cases with this form of prese...
متن کاملA family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?
We present an Arab family with some features of Kniest disease. The proband was a six year old boy with rhizomelic short limbed dwarfism, 'dish-like' facies, cleft palate, deafness, and camptodactyly. Most radiological changes were compatible with Kniest disease. Two younger sibs, similarly affected, had died at a few months old, and the pedigree shows strong evidence of autosomal recessive inh...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Bone and Joint Surgery. British volume
سال: 1982
ISSN: 0301-620X,2044-5377
DOI: 10.1302/0301-620x.64b4.6807993