Early diagnosis of Meckel's syndrome.
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 use to confirm the diagnosis.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008831:Microcephaly / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome