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.