Cloacal dysgenesis sequence associated with esophageal atresia and tracheoesophageal fistula: A case report and review of literature

Rajendran Ramaswamy, Rayan Ahmed Baz, Marwan Alchami, Ghazi Mukattash


Absence of any orifice in perineum, presence of smooth perineum, and absence external genitalia are characteristic of cloacal dysgenesis sequence (CDS). Newborn of 40w gestational age, born to mother with oligohydramnios, had very low APGAR scores, and was put on ventilator. Child had dysmorphic facies, short neck, compressed chest, no urinary bladder swelling, absence of any perineal orifice, a raised fold of skin at the site of phallus and bilateral talipes calcaneovalgus. Esophageal atresia (EA) was diagnosed clinically and radiographically. Pulmonary hypoplasia, distal tracheoesophageal fistula (TOF), thin, flat and broad cervical vertebrae with spina bifida, partial sacral agenesis and cardiac anomalies were demonstrated by radiographs and echocardiography respectively. Child progressively more desaturated on ventilator and died at 16h after birth before detailed assessment including sex could be done. CDS results from failure of urorectal septum to fuse with cloacal membrane at 7th week of intrauterine life. It can occur in male and female. CDS is lethal resultant from associated severe pulmonary hypoplasia and renal insufficiency. Very rarely such child is born alive as in our case. Association of CDS with EA+TOF is extremely rare. In view of 5 long-term survival reports of CDS, prenatal diagnosis is warranted and treatment should be initiated.


Cloacal dysgenesis sequence, absent perineal orifice, absent external genitalia, compressed chest, urorectal septum malformation sequence.

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