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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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1
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. ronald_glass@smtplink.mssm.edu

Abstract

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.

PMID:
10494084
[Indexed for MEDLINE]
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