Shiasi Arani Kobra
Pediatric Endocrinologist, Research Center for Biochemistry and Nutrition in Metabolic Disorders, Kashan University of Medical Sciences, Kashan, Iran.
Med J Islam Repub Iran. 2013 Aug;27(3):157-60.
Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other featuresincluded hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease,celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has notbeen 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 refluxand 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.
软骨毛发发育不全（CHH）是干骺端软骨发育不良和身材矮小的罕见病因。其他特征包括毛发异常、免疫缺陷、贫血、胃肠道疾病（先天性巨结肠、乳糜泻等）以及患癌风险增加。该疾病为常染色体隐性疾病，此前在伊朗尚未有报道。我们报告了一名9岁男孩，被诊断为软骨毛发发育不全，伴有严重身材矮小、干骺端软骨发育不良、毛发发育不全、先天性巨结肠、甲状腺功能减退、膀胱输尿管反流和肾结石。肾结石和甲状腺功能减退在软骨毛发发育不全中的报道频率较低。这是伊朗关于软骨毛发发育不全的首例报告。
