Cartilage hair hypoplasia
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Cartilage-hair hypoplasia (CHH) is a form of short-limbed dwarfism due to skeletal dysplasia. It is an autosomal recessive inherited disorder. It was first reported in 1965 by McKusick et al.
References
- McKusick VA, Eldridge R, Hosteler JA, Ruangwit U, Egeland JA (1965). "Dwarfism In The Amish. II. Cartilage-hair hypoplasia". Bull Johns Hopkins Hosp. 116: 285–326. PMID 14284412.