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June 13, 1977

Heredity and Multiple Epiphyseal Dysplasia

JAMA. 1977;237(24):2600. doi:10.1001/jama.1977.03270510022002

To the Editor.—  In their family case report on multiple epiphyseal dysplasia (236:2629, 1976), Drs Mena and Pearson incorrectly interpreted the pedigree. Unfortunately, their failure to recognize a typical example of autosomal dominant inheritance appeared not just in the text but also prominently in the synopsis-abstract.The characteristics of inheritance due to a single, completely dominant, rare autosomal gene include (1) direct transmission from affected person to affected person, without skips or breaks in continuity, (2) two sexes affected in equal numbers, and (3) approximately one half of the offspring of affected persons similarly affected.1 In the article, the authors stated that "the second generation... showed a dominant pattern, but the third generation did not." Yet every affected person in the third generation has an affected parent in the second generation, which is entirely consistent with this form of inheritance. The fact that only three of eleven progeny of