title: 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.
authors.affiliation: Areej Alam, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan.
authors.forename: Areej
authors.initials: A
authors.lastname: Alam
authors.affiliation: Mehreen Adhi, Department of Ophthalmology, Tufts University School of Medicine, Boston, USA.
authors.forename: Mehreen
authors.initials: M
authors.lastname: Adhi
authors.affiliation: Raffat Bano, Department of Obs & Gyn, Aga Khan Hospital for Women, Karimabad, Karachi, Pakistan.
authors.forename: Raffat
authors.initials: R
authors.lastname: Bano
authors.affiliation: Aisha Zubair, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan.
authors.forename: Aisha
authors.initials: A
authors.lastname: Zubair
authors.affiliation: Ammara Mushtaq, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan.
authors.forename: Ammara
authors.initials: A
authors.lastname: Mushtaq
keywords: Dysencephalia Splanchnicocystica; Meckel Gruber Syndrome