Meckel Gruber Syndrome: A rare and lethal anomaly

Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by at least two of the following three manifestations; renal cystic dysplasia (95%-100%), occipital encephalocele (60%-80%) and postaxial polydactyly (55%-75%) [1]. Other anomalies of MGS include a variety of CNS malformations such as microcephaly, anencephaly, holoprosencephaly, hydrocephaly, Arnold-Chiari or Dandy Walker malformation, agenesis of the corpus callosum, absence of olfactory tract or lobe and cardiac anomalies atrial septal defect, ventricular septal defect [2]. The excessively large, cystic kidneys cause marked abdominal distension. Facial anomalies such as cleft lip, high arched palate and hypertelorism are also observed in many cases [2].