Radiologic changes in infancy in McKusick cartilage hair hypoplasia

Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, cl assically comprises short stature and scant fine hair. In this skeletal dys plasia there is a high incidence of immune deficiency and Hirschsprung dise ase, as well as a higher rate of malignancy. Clinical findings may be subtl e in young children, and radiographic changes may be elusive. We present fo ur children below age 2 in whom the clinical diagnosis of CHH was confirmed radiographically. We emphasize radiologically and clinically discernable a nterior angulation of the entire sternum, a sign not previously described i n this dysplasia. Am. J. Med. Genet. 86:312-315, 1999, (C) 1999 Wiley-Liss, Inc.