Autosomal dominant inheritance of Klein-Waardenburg syndrome.

American journal of medical genetics ·Vol. 42 ·No. 3 ·1992-02-01 ·Pages 320-2

Sheffer R, Zlotogora J

Abstract

We report on 2 sibs with the Klein-Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein-Waardenburg syndrome is an autosomal dominant syndrome.

MeSH Terms

Adult Female Genes, Dominant/genetics Humans Infant, Newborn Male Waardenburg Syndrome/genetics

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Sheffer R

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

Zlotogora J

Article Info

Journal

American journal of medical genetics

Abbr.

Am J Med Genet

ISSN

0148-7299

DOI

10.1002/ajmg.1320420312

Published

1992-02-01

Pages

320-2

Language

English

Region

United States

NLM ID

7708900

Subset

External Links

PubMed source DOI: 10.1002/ajmg.1320420312

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Autosomal dominant inheritance of Klein-Waardenburg syndrome.

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