نتایج جستجو برای: spondyloepiphyseal dysplasia
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Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with heterozygous female carriers showing no consistent abnormalities. The gene causing SEDT, which is ...
The syndrome of short stature inherited as an X-linked recessive trait was first reported by Jacobsen (1939) who described one family under the title 'hereditary osteochondrodystrophia deformans'. Three more pedigrees were studied by Maroteaux, Lamy, and Bernard (1957), who proposed the name dysplasia spondyloepiphysaire tardive, or spondyloepiphyseal dysplasia tarda (SDT). These authors also d...
BACKGROUND Morquio syndrome is an autosomal recessive lysosomal storage disorder, a mucopolysaccharidosis (PMS), characterized by abnormal metabolism of glycosaminoglycans. Major treatable concerns in patients with MPS type IV involve C1 to C2 instability, genu valgum, and hip subluxation. All patients demonstrate characteristic acetabular dysplasia and failure of ossification of the superolate...
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