title: Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies.
abstract: Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus.
authors.affiliation: Selçuk University Meram Medical Faculty, Department of Pediatrics, Konya, Turkey.
authors.forename: Esma
authors.initials: E
authors.lastname: Alp
authors.forename: Hayrullah
authors.initials: H
authors.lastname: Alp
authors.forename: Mehmet Emre
authors.initials: ME
authors.lastname: Atabek
authors.forename: Özgür
authors.initials: Ö
authors.lastname: Pirgon
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000568:Amenorrhea / Q000473:pathology*; D004480:Ectromelia / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities / Q000473:pathology; D014599:Uterus / Q000002:abnormalities / Q000473:pathology