Early Diagnosis of Meckel's Syndrome

Abstract

Summary: Meckel's syndrome is a disorder of polygenic origin inherited as an autosomal recessive. The main features are microcephaly, occipital encephalocoele with associated midline facial defects, renal' and limb anomalies. The diagnosis has previously been made ultrasonically by the repeated demonstration of small head size. In this instance a renal anomaly was demonstrated and used to confirm the diagnosis.