Çocuk Sağlığı ve Hastalıkları Dergisi 2004 , Vol 47 , Num 3
Femoral-facial syndrome: a case-report
Ayşe Korkmaz 1, Aslı Çınar2, Özlem Tekşam2, Murat Yurdakök 3,Yasemin Alanay2, Sevim Balcı3
Hacettepe Üniversitesi Tıp Fakültesi 1Pediatri Öğretim Görevlisi, 2Pediatri Uzmanı, 3Pediatri Profesörü Femoral hypoplasia-unusual facies (femoral-facial) syndrome is a rare clinical entity that is commonly associated with maternal diabetes. Major features include atypical facial appearance (long filtrum, cleft palate, ear anomalies) with skeletal (mainly femoral hypoplasia and bowing), genitourinary and cardiovascular anomalies. Prenatal diagnosis needs a high index of suspicion and differential diagnosis from other skeletal dysplasias. In this case a preterm infant of a diabetic mother with femoral hypoplasia-unusual facies syndrome is discussed briefly. Anahtar Kelimeler : femoral-fasiyal sendrom, femoral hipoplazi,femoral-facial syndrome, femoral hypoplasia-bowing
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