[Metaphyseal chondrodysplasia of the McKusick type (cartilage-hair hypoplasia)].
Cartilage-Hair-Hypoplasia is a rare form of metaphyseal chondrodystrophia. Its clinical picture is characterized by dysproportionate deficient growth shift to length of upper part of the body. The hair diameter is reduced, and the eyebrows are defectly marked. After stimulation by insulin, the levels of somatotropic hormone are found in the acromegalic range. The bone structure is rarefied at the distal metaphyses of the metacarpals and the proximal metaphyses of the finger basal phalanges. The most important roentgenologic symptoms to be found are clowdy, cystic rarefactions at the distal femoral metaphyses. As to the pathophysiology, deficient proliferation of cartilaginous cells is mentioned in literature.
D002357:Cartilage Diseases / Q000150:complications*; D002358:Cartilage, Articular; D002648:Child; D004392:Dwarfism / Q000150:complications*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013577:Syndrome
Metaphysäre Chondrodysplasie vom Typ McKusick (Knorpel-Haar-Hypoplasie).