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

Areej Alam, Mehreen Adhi, Raffat Bano, Aisha Zubair, Ammara Mushtaq

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)234-236
Number of pages3
JournalPakistan Journal of Medical Sciences
Issue number1
StatePublished - Dec 12 2012
Externally publishedYes


  • Dysencephalia splanchnicocystica
  • Meckel Gruber Syndrome

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage'. Together they form a unique fingerprint.

Cite this