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Fetal Diagn Ther. 2001 Sep-Oct;16(5):308-11.

First-trimester diagnosis of Robinow syndrome.

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  • 1Department of Medical Biology and Genetics, Cumhuriyet University School of Medicine, Sivas, Turkey.

Abstract

We present 2 cases with Robinow syndrome in a nonconsanguineous Turkish couple. The first case, second living child of the family, has all of the cardinal features of this syndrome including short stature, mesomelic shortening of forearms, frontal bossing, hypertelorism, anteverted nares, triangular mouth, hypoplastic genitalia and vertebral and costal anomalies. The second case was diagnosed with first-trimester ultrasonographic findings such as shortening of extremities and increased nuchal translucency thickness at 12 + 4 weeks of gestation, and the family wished to terminate this pregnancy. After abortion, we obtained findings such as typical face features, shortening of forearms, ambiguous genitalia suggesting Robinow syndrome with autopsy examination.

Copyright 2001 S. Karger AG, Basel

PMID:
11509854
[PubMed - indexed for MEDLINE]
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