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Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports
Author(s) -
Akçit Sadik,
Aydinlioǧlu Haul,
Dizdarer Gülşen,
Çaǧlayan Suat,
Bektaşlar Dilber,
Cin Ayşe
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02552.x
Subject(s) - frontal bossing , hypertelorism , short stature , medicine , umbilical hernia , anatomy , pediatrics , hernia , surgery
We describe the clinical features of Robinow syndrome in the children of four Turkish couples. All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic shortening of the forearms, vertebral and costal anomalies and hypoplastic genitalia. In contrast to reports in the literature, one patient showed extensive webbing of the toes and epigastric hernia. Parental consanguinity was present in two of the four cases. To our knowledge, at least 80 cases have been reported in the literature to date, including 19 cases born to Turkish couples in addition to our four cases. The evidence suggests that the frequency of Robinow syndrome is relatively higher in Turkey than in other areas of the world.