CARTILAGE-HAIR HYPOPLASIA SYNDROME - IMPLICATIONS FOR PRENATAL-DIAGNOSIS

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency. We describe here the prenatal diagnosis o f CHH in a woman who was previously delivered of a similarly affected infant. In addition, we review the prenatal diagnostic implications of the localization, by linkage analysis, of the gene responsible for ma ny cases of CHH.