First trimester diagnosis of Meckel Gruber syndrome in pregnancy.

Meckel Gruber syndrome was originally described by Meckel in 1822, later by Gruber and more recently by Opitz and Howe.1 It is a lethal autosomal recessive disorder characterized by the triad of encephalocele, polycystic kidneys and polydactyly. Prenatal ultrasonographic diagnosis of this condition has been reported extensively during the second and third trimeter. In the low risk population the estimated prevalence of the condition is about 1 in 20,000 pregnancies.2 The disorder is more frequently encountered in the children of consanguineously married couples. The prevalence of this disorder in Pakistan is expected to be higher as the recent Pakistan Demographic and Health. Survey (DHS) shows that almost two-thirds of marriages in Pakistan are consanguineous.3 A case of Meckel Gruber Syndrome diagnosed by ultrasound examination is presented.