Wedge-shaped epiphyses of the knees in two siblings: a new recessive rare dysplasia?
A peculiar form of metaphyseal dysplasia, mainly of the lower limbs, occurred in two male siblings born to healthy, unrelated parents. The clinical and radiological features were short stature, psychomotor retardation, accelerated bone maturation, the limbs and especially the knees showing cup-shaped widening of the ends of the metaphyses and wedge-shaped widening of the epiphyses. This condition does not fit the description of any syndrome reported so far and may therefore be classified as a new recessive dysplasia.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D004838:Epiphyses / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007717:Knee / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography