Abstract

SAUD, Anibal; ARTIS, Maria Teresa; CORDOBA, Keila  and  GUZMAN, Jojana. Herencia dominante de malformación anorrectal. Estudio en una familia . Gen [online]. 2009, vol.63, n.4, pp.292-295. ISSN 0016-3503.

The Malformations anorectal (MAR) are a group of congenital malformations characterized by the lack of union between the anal pit and duct anorectal. Affects men often slightly greater than in the women, and are presented in one of every 4000 to 5000 newborn. The estimated risk of a couple of having another child with a sea is about 1 %. Described in some cases by a recessive autosomal inheritance type but the recurrence in the brotherhood is generally low. We present a of newborn male with antenatal diagnosis of congenital megacolon vs. MAR physical examination is evidenced not permeable anus and is backed with invertograma with high MAR, finding which colostomy it´s why colostomy derivation itÊs mode, and at a second surgical time diagnoses intestinal malrotation. It´s made It is interesting to present it since three direct members of a family group have a history of congenital malformation of the tract gastrointestinal with clinical variety, being novel to stand out the hereditary transmission of this rare condition.

Keywords : anorectal; megacolon malformation.