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.