IS THE FREQUENCY OF ROBINOW-SYNDROME RELATIVELY HIGH IN TURKEY - 4 MORE CASE-REPORTS

Citation
S. Aksit et al., IS THE FREQUENCY OF ROBINOW-SYNDROME RELATIVELY HIGH IN TURKEY - 4 MORE CASE-REPORTS, Clinical genetics, 52(4), 1997, pp. 226-230
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
52
Issue
4
Year of publication
1997
Pages
226 - 230
Database
ISI
SICI code
0009-9163(1997)52:4<226:ITFORR>2.0.ZU;2-3
Abstract
We describe the clinical features of Robinow syndrome in the children of four Turkish couples. All the patients had cardinal features of thi s condition, such as short stature, frontal bossing, hypertelorism, sh ort upturned nose with anteverted nares, micrognathia, mesomelic short ening of the forearms, vertebral and costal anomalies and hypoplastic genitalia. In contrast to reports in the literature, one patient showe d extensive webbing of the toes and epigastric hernia. Parental consan guinity was present in two of the four cases. To our knowledge, at lea st 80 cases have been reported in the literature to date, including 19 cases born to Turkish couples in addition to our four cases. The evid ence suggests that the frequency of Robinow syndrome is relatively hig her in Turkey than in other areas of the world.