Indian Journal of Forensic Medicine & Toxicology
  • Year: 2012
  • Volume: 6
  • Issue: 2

Meckel Gruber Syndrome- A Case Report

  • Author:
  • Vardendra Kulkarni1,, Seema Bijjaragi1, Satish Belagatti1, Sunil S Kadam2
  • Total Page Count: 3
  • Page Number: 236 to 238

1Assistant Professor, Department of Pathology, J J M Medical College, Davangere - 577 004 (Karnataka)

2Assistant Professor, Department of Forensic Medicine, J J M Medical College, Davangere - 577 004 (Karnataka)

*Corresponding Address: Vardendra Kulkarni, Assistant Professor, Department of Pathology, J J M Medical College, Davangere - 577004 (Karnataka) Mob: 9731501466, e-mail:vardendrak@rediffmail.com

Online published on 11 October, 2012.

Abstract

Meckel-Gruber syndrome (MKS) is a rare congenital polymalformative syndrome with an autosomal recessive mode of inheritance. It is characterized by a classic triad of renal cystic disease, CNS malformation and polydactyly. The outcome of the syndrome is usually lethal. Prenatal diagnosis of the syndrome can be made by ultrasound examination between 11–14 weeks of gestation. Termination of the pregnancy can be offered if the diagnosis is made before viability. The parents have to be counseled regarding the chances of recurrence in the subsequent pregnancy. We report a case of a stillborn male fetus with features compatible with Meckel-Gruber syndrome.

Keywords

Meckel-Gruber Syndrome, Encephalocele, Cystic Renal Dysplasia