Volume 27, Issue 3 (Published 24 July 2013)                   Med J Islam Repub Iran 2013 | Back to browse issues page


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Shiasi Arani K. Cartilage Hair Hypoplasia: First report from Iran. Med J Islam Repub Iran. 2013; 27 (3) :157-160
URL: http://mjiri.iums.ac.ir/article-1-1894-en.html

Pediatric Endocrinologist Research Center for Biochemistry and Nutrition in Metabolic Disorders, Kashan University of Medical Sciences, Kashan, Iran. , kobra.shiasi@yahoo.com
Abstract:   (1759 Views)

  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.

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Type of Study: case report | Subject: Biochemistry and Nutrition

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