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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]