Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

doi:10.1002/1096-8628(20000731)93:3<244::aid-ajmg17>3.0.co;2-2

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Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

American journal of medical genetics - 31 Jul 2000

Courtens W, Rassart A, Stene J J, Vamos E

Abstract excerpt

Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor...

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Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

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