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

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

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 37 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<279::aid-ajmg10>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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