One fetus - Two syndromes

The present case is the second pregnancy of healthy non-consanguineous parents. The family history is negative with regard to congenital anomalies. Severe fetal cerebral anomalies are seen at a gestational age of 16 weeks and the pregnancy is terminated. Fetal examination reveals anencephaly, facial disruption, anal atresia and club feet. Amniotic bands attached to the skull and face explain the craniofacial anomalies. The anal atresia is one of the symptoms seen in a specific chromosomal deletion syndrome, as confirmed by cytogenetic analysis of cultured amniocytes. This case illustrates that multiple congenital anomalies in the fetus justify karyotyping, even in the presence of other obvious disease- causing factors.