{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T22:08:41Z","timestamp":1778364521091,"version":"3.51.4"},"reference-count":0,"publisher":"Pakistan Journal of Medical Sciences","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pak J Med Sci"],"abstract":"<jats:p>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) &amp; 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.291.2930How 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.<\/jats:p>","DOI":"10.12669\/pjms.291.2930","type":"journal-article","created":{"date-parts":[[2013,1,17]],"date-time":"2013-01-17T13:59:53Z","timestamp":1358431193000},"source":"Crossref","is-referenced-by-count":4,"title":["Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage"],"prefix":"10.12669","volume":"29","author":[{"given":"Ammara","family":"Mushtaq","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4935","published-online":{"date-parts":[[2013,1,15]]},"container-title":["Pakistan Journal of Medical Sciences"],"original-title":[],"link":[{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/17554\/4304","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/download\/17554\/4304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T21:19:41Z","timestamp":1778361581000},"score":1,"resource":{"primary":{"URL":"https:\/\/pjms.org.pk\/index.php\/pjms\/article\/view\/17554"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,15]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,2,23]]}},"URL":"https:\/\/doi.org\/10.12669\/pjms.291.2930","relation":{},"ISSN":["1681-715X","1682-024X"],"issn-type":[{"value":"1681-715X","type":"electronic"},{"value":"1682-024X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1,15]]}}}