[Spondyloepiphyseal dysplasia with an accumulation of glycoproteins in chondrocytes].
A case presenting a peculiar type of spondylo-epiphyseal dysplasia was studied. Clinically, the normal height was striking. The X-rays showed large epiphysis and wide metaphysis. Bilateral coxa valga with very large femoral necks was present. The height of the vertebral bodies was slightly reduced. The study of the upper tibial growth cartilage showed glycoprotein inclusions in the chondrocytes and large dilatations of the rough endoplasmic reticulum. The gel electrophoresis of the non collagenous proteins extracted from the growth cartilage had an abnormal densitometric tracing. The type of inheritance of this syndrome is unknown, the patient being an isolated case in a normal family.
D000293:Adolescent; D002358:Cartilage, Articular / Q000032:analysis*; D002648:Child; D002675:Child, Preschool; D006023:Glycoproteins / Q000032:analysis*; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography
D006023:Glycoproteins
Dysplasie spondylo-épiphysaire avec accumulation de glycoprotéines dans les chondrocytes.