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Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families by David Chitayat; Art Grix; J. Williamson Balfe; Jacques S. Abramowicz; Judy Garza; Chin-To Fong; Meredith M. Silver; Devereux N. Saller; George H. Bresnick; Andres Giedion; Ralph S. Lachman; David L. Rimoin is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families about?

We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate short stature. However, the propositus and the affected relatives in the second family were only short compared to unaffected relatives. The hypertension was medically responsive in all cases. The propositus in the second family had poor compliance and a striking generalized vasculopathy. All patients were of normal intelligence and had a normal facial appearance. The brachydactyly-short stature-hypertension syndrome was first reported by Bilginturan et al. [1973] in a Turkish family and the families reported by us are Caucasian and Hispanic. The gene causing this condition in the original Turkish family was recently mapped to 12p. Our report expands our existing knowledge and the ethnic diversity of this syndrome.

Who reads Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families?

Author

David Chitayat; Art Grix; J. Williamson Balfe; Jacques S. Abramowicz; Judy Garza; Chin-To Fong; Meredith M. Silver; Devereux N. Saller; George H. Bresnick; Andres Giedion; Ralph S. Lachman; David L. Rimoin

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1997

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)