Paper

First-Trimester Diagnosis of Robinow Syndrome
E. Ferda Percin^a, Tevfik Guvenal^b, Ali Cetin^b, Stk Percin^c, Fahrettin Goze^d, Sema Arici^d

Departments of
^aMedical Biology and Genetics,
^b Obstetrics and Gynecology,
^cOrthopedics and Traumatology, and
^dPathology, Cumhuriyet University School of Medicine, Sivas, Turkey

Address of Corresponding Author

Fetal Diagn Ther 2001;16:308-311 (DOI: 10.1159/000053933)

  Key Words

• Robinow syndrome
• Nuchal translucency
• First trimester
• Prenatal diagnosis

  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

  Author Contacts

Dr. Tevfik Guvenal
Department of Obstetrics and Gynecology
Cumhuriyet University School of Medicine
TR-58140 Sivas (Turkey)
Tel./Fax +90 346 2191688, E-Mail tguvenal@ttnet.net.tr

  Article Information

Received: Received: July 2, 2000
Accepted after revision: November 14, 2000
Number of Print Pages : 4
Number of Figures : 6, Number of Tables : 0, Number of References : 13