UNUSUAL PRESENTATION OF BILIARY ATRESIA SPLENIC MALFORMATION SYNDROME WITH AUTOSOMAL DOMINANT HYPOSPADIAS
Küçük Resim Yok
Tarih
2011
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Unusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hspospadias: Biliary atresia is associated with polysplenia in 2-10% of cases and is defined as Biliary Atresia Splenic Malformation syndrome (BASM). The main features of BASM syndrome include extrahepatic biliary atresia and polysplenia besides the characteristic findings of laterality anomalies, cardiac anomalies, intraabdominal vascular anomalies, pancreatic anomalies and malrotation. Here we present a 6-month-old male patient with BASM having atrial septal defect, umblical hernia, inguinal hernia, and hypospadias. Clinical history revealed that his father also had hypospadias which showed a rare form of autosomal dominant inheritance. The karyotype was normal and the molecular analysis of CFCI gene revealed no mutation. We emphasize the importance or a detailed physical examination in cases with BASM.
Açıklama
Anahtar Kelimeler
Biliary Atresia Splenic Malformation syndrome, Autosomal dominant inheritance, Hypospadias
Kaynak
Genetic Counseling
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
22
Sayı
4
