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  • Title: [Variants of radial hemimelia with and without vitium cordis (Holt-Oram syndrome) in 2 families].
    Author: Pfeiffer RA, Böwing B, Deeg KH.
    Journal: Monatsschr Kinderheilkd; 1989 May; 137(5):275-9. PubMed ID: 2739665.
    Abstract:
    In two families radial hemimelia is inherited as a dominant trait. The first proposita suffered from bilateral radial aplasia, the 2nd propositus exhibited (pseudo)phocomelia. In this case the diagnosis was Holt-Oram-syndrome. The affected mothers showed unilateral hypoplasia of the thumb only. Cases like these ones are likely to be overlooked or misinterpreted. The recurrence risk is 50%. Similar observations are quoted. The cause of "variable expressivity" is unknown.
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