Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage

Abstract

Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.

doi: http://dx.doi.org/10.12669/pjms.291.2930

How to cite this:Alam A, Adhi M, Bano R, Zubair A, Mushtaq A. Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage. Pak J Med Sci 2013;29(1):234-236.   doi: http://dx.doi.org/10.12669/pjms.291.2930

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