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Inherited syndrome associated with mild mental retardation, malformations of the extremities and occasionally deafness.

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Anonychia Onychodystrophy Brachydactyly, Type B.

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Reported in only one kindred across five generations. Autosomal dominant inheritance with variable penetrance.

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The malformations are confined to the limbs: absent or dystrophic fingerand toenails, hypoplastic metacarpals, metatarsals, and distal phalanges, clinodactyly, and long, broad finger-like thumbs. Two individuals had absent metacarpals and phalanges. Mild mental retardation occurred in some individuals.

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Mental retardation may limit cooperation. Sedative/anxiolytic premedication and/or the presence of the primary caregiver for induction of anesthesia may be helpful.

Kumar D, Levick RK: Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. Clin Genet 30:219, 1986.  [PubMed: 3780038]

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