Cartilage hair hypoplasia.
Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature.
D000367:Age Factors; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome