Malformation anorectale et complexe sphinctérien anorectal
نویسندگان
چکیده
We report the case of a patient referred to our prenatal diagnostic unit due to the suspicion of spina bifida at 24 weeks gestation. Morphological assessment revealed rachischisis associated with Chiari type II, single kidney and anorectal malformation. The nonvisualization of the anal sphincter complex (ASC) on ultrasound led to the diagnosis of suspected high-type anorectal malformation (A,B et C). Ultrasound examination showed neither limbs abnormalities of the limbs, nor cardiopathies and signs of atresia of the esophagus. Amniotic fluid karyotype showed no fetal abnormalities (46, XY). Therapeutic abortion was requested by parents after explanation of the fetal prognosis showing the absence of the anus (D). Fetopathological examination allows to confirm the diagnosis of high-type or low-type anorectal malformation associated to the absence of ASC and its related abnormalities.
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