Cartilage hair hypoplasia: First report from Iran

Shiasi-Arani, K. (2013) Cartilage hair hypoplasia: First report from Iran. Medical Journal of the Islamic Republic of Iran, 27 (3). pp. 157-160.

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Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, ...) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as cartilage hair hypoplasia, with severe short stature, metaphyseal chondrodysplasia, hair hypoplasia, Hirschsprung disease, hypothyroidism, vesicouretral reflux and renal stone. Renal stone and hypothyroidism have been reported in cartilage hair hypoplasia with lower frequencies. This is the first report of cartilage hair hypoplasia in Iran.

Item Type: Article
Additional Information: cited By 2
Subjects: Medicine
Divisions: Faculty of Medicine > Clinical Sciences > Department of Internal Medicine
Depositing User: editor . 2
Date Deposited: 03 Mar 2017 15:24
Last Modified: 03 Mar 2017 15:24

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