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Radiologic changes in infancy in McKusick cartilage hair hypoplasia

✍ Scribed by Glass, Ronald B.J.; Tifft, Cynthia J.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
26 KB
Volume
86
Category
Article
ISSN
0148-7299

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✦ Synopsis

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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## Abstract Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non‐coding RNA gene __RMRP__. Twenty‐seven CHH patients were referred for molecular evaluation o