Cartilage-hair hypoplasia

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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, HOSTETLER JA, RUANGWIT U, EGELAND JA (1965). "DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA". Bull Johns Hopkins Hosp 116: 285-326. PMID 14284412.

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