Document Type
Article
Department
Obstetrics and Gynaecology
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.
Publication (Name of Journal)
Pakistan Journal of Medical Sciences
Recommended Citation
Alam, A.,
Adhi, M.,
Bano, R.,
Zubair, A.,
Mushtaq, A.
(2013). Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage. Pakistan Journal of Medical Sciences, 29(1), 234-236.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_obstet_gynaecol/46
Creative Commons License
This work is licensed under a Creative Commons Attribution 3.0 License.