نتایج جستجو برای: high type anorectal malformation

تعداد نتایج: 3188109  

Journal: :Journal of medical genetics 2000
S A Lynch Y Wang T Strachan J Burn S Lindsay

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allow...

Journal: :BMJ case reports 2014
Isabel Rosário Periquito Célia Iglésias Neves Filipe Catela Mota Teresa Tomé

dichorionic triamniotic pregnancy. A caesarean section was performed at 34 weeks of gestation. The Apgar score was 9/10, weight 2425 g and physical examination revealed a congenital malformation in the perianal region with 13.8 mm of greater axis, spherical pedunculated and soft, with a cylindrical 5 mm form attached, similar to an accessory penis and scrotum (figure 1). The neonate underwent a...

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