associated with mild mental retardation, malformations of the extremities and occasionally deafness.
Anonychia Onychodystrophy Brachydactyly, Type B.
Reported in only one
kindred across five generations. Autosomal dominant inheritance with
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
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