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词汇 Cartilage hair hypoplasia
分类 英语词汇 英语翻译词典
释义

Cartilage hair hypoplasia

英语百科

Cartilage–hair hypoplasia

(重定向自Cartilage hair hypoplasia)
Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance.

Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare genetic disorder. It is a highly pleiotropic disorder that clinically manifests by form of short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency and predisposition to malignancies in some cases. It was first reported in 1965 by McKusick et al. Actor Verne Troyer is affected with this form of dwarfism, as was actor Billy Barty, who was renowned for saying "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy."

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