Abstract
Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia which results in disproportionate short stature (mean adult height of 120-130 cm), hypoplastic hair and impaired cellular immunity. The defect has been assigned to chromosome 9p but the causative gene remains uncharacterized. We have previously shown that defective erythropoiesis is an integral part of CHH. The patients often present with anemia and macrocytosis. Irrespective of the degree of anemia, bone marrow cultures show impaired growth of the erythroid stem cells. Since growth hormone may regulate both body growth and erythropoiesis we have studied hematological characteristics and their correlations with growth and related parameters in 13 patients with CHH.
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