Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Abstract excerpt

Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below -2.0 SD in 70% of the patients; the adult heights ranged from -11.4 SD to -5.2 SD. The sitting height percentage was increased in all but 4 patients. Six...

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