First-trimester diagnosis of Robinow syndrome

We present 2 cases with Robinow syndrome in a nonconsanguineous Turkish cou ple. The first case, second living child of the family, has all of the card inal features of this syndrome including short stature, mesomelic shortenin g of forearms, frontal bossing, hypertelorism, anteverted nares, triangular mouth, hypoplastic genitalia and vertebral and costal anomalies. The secon d case was diagnosed with first-trimester ultrasonographic findings such as shortening of extremities and increased nuchal translucency thickness at 1 2 + 4 weeks of gestation, and the family wished to terminate this pregnancy . After abortion, we obtained findings such as typical face features, short ening of forearms, ambiguous genitalia suggesting Robinow syndrome with aut opsy examination. Copyright (C) 2001 S. Karger AG, Basel.