Familial intestinal polyatresia syndrome.
Familial multiple-level intestinal atresia is a rare syndrome with autosomal recessive inheritance. Only a few well-documented families have been reported in the medical literature. In this article two new cases from a consanguineous couple are presented. These are the first reported cases of Familial Intestinal Polyatresia Syndrome from Turkey. The importance of this report is that the recognition of multiple intestinal atresias as an invariably fatal syndrome will be helpful for genetic counselling and attempts at early prenatal diagnosis for successive pregnancies in these couples.
Güngör
N
N
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Balci
S
S
Tanyel
F C
FC
Göğüş
S
S
D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome