[Body stalk anomaly--a case report on a rare congenital defect].

Abstract

Introduction: A body stalk anomaly is a rare congenital defect. The anomaly is one of the anterior abdominal wall defects. It is characterized by severe clefts of the abdominal wall with absence of or very small, umbilical cord.

Case report: We report on a patient in the 21st week of gestational age with the ultrasonographic findings of multiple fetal anomalies including a singular umbilical artery and an ahydramnion. She was sent to hospital for termination of the pregnancy. The karyotype was normal (46 XX). Ultrasonographic evaluation of the fetal anterior abdominal wall was impossible due to ahydramnion. Clinical examination showed an omphalocoele with herniation of the stomach, the small intestine, the liver and the spleen. A very short umbilical cord was observed which was attached to the omphalocoele. The lower limbs were deformed. Furthermore, anal atresia with an extroverted coele was found. Autopsy confirmed the clinical diagnosis of a body stalk anomaly.

Discussion: It is important to distinguish a body stalk anomaly from other types of anterior abdominal wall defects because of their prognosis and an appropriate medical management. A body stalk anomaly is a sporadic defect and not associated with chromosomal abnormalities. This congenital defect is invariably lethal.