Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies
Küçük Resim Yok
Tarih
2010
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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 14 th 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 15 th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.
Açıklama
Anahtar Kelimeler
Al-Awadi/Raas-Rothschild syndrome, Pelvic agenesis, Phocomelia
Kaynak
JCRPE Journal of Clinical Research in Pediatric Endocrinology
WoS Q Değeri
Scopus Q Değeri
Q2
Cilt
2
Sayı
1
