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Am J Med Genet. 1999 Oct 8;86(4):312-5.

Radiologic changes in infancy in McKusick cartilage hair hypoplasia.

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Department of Diagnostic Imaging and Radiology, Children's National Medical Center and the George Washington University School of Medicine and Health Sciences, Washington, DC, USA.


Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. In this skeletal dysplasia there is a high incidence of immune deficiency and Hirschsprung disease, as well as a higher rate of malignancy. Clinical findings may be subtle in young children, and radiographic changes may be elusive. We present four children below age 2 in whom the clinical diagnosis of CHH was confirmed radiographically. We emphasize radiologically and clinically discernable anterior angulation of the entire sternum, a sign not previously described in this dysplasia.

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