Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports
Küçük Resim Yok
Tarih
1997
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Munksgaard Int Publ Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
hypoplastic genitalia, mesomelic brachymelia, Robinow syndrome, skeletal abnormalities
Kaynak
Clinical Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
Q1
Cilt
52
Sayı
4
