McKusick's type of metaphyseal chondrodysplasia

Alternative eponyms

Related people

A syndrome of short-limbed dwarfism, leg bowing, and a variety of other skeletal features.

Description

Formerly called cartilage-hair hypoplasia. A syndrome of short-limbed dwarfism, leg bowing, and a variety of other skeletal features: fine sparse hair, eyebrows and eyelashes; hypoplasia of the cartilage, laxity of the ligaments, short hands and feet, and immunological incompetence. The syndrome was first recognized among the Amish, but has more recently been identified in other groups. Inheritance is autosomal recessive, with reduced penetrance.

Bibliography

  • V. A. McKusick, R. Eldridge, J. A. Hostetler, and J. A. Egeland:
    Dwarfism in the Amish.
    Transactions of the Association of American Physicians, Philadelphia, 1964, 77: l5l-l68.
    Reprinted in Birth Defects Reprint Series, National Foundation, l965.
  • V. A. McKusick, R. Eldridge, J. A. Hostetler, U. Ruangwit, J. A. Egeland:
    Dwarfism in the Amish. II. Cartilage-hair hypoplasia.
    Bulletin of the Johns Hopkins Hospital, Baltimore, 1965, 116: 285-326.

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