Meckel-Gruber Syndrome: A Case Who Lived for 5 Months

Pediatr Neurosurg. 2019;54(4):277-280. doi: 10.1159/000500766. Epub 2019 Jul 1.

Abstract

The Meckel-Gruber syndrome is a rare, congenital, and lethal malformation characterized by typical manifestations such as encephalocele, polycystic kidneys, and polydactyly. Herein, we present a case of a patient with the typical triad as well as facial, ocular, liver, and genital abnormalities who lived for almost 5 months.

Keywords: Encephalocele; Meckel-Gruber syndrome; Polycystic kidneys; Polydactyly.

Publication types

  • Case Reports

MeSH terms

  • Ciliary Motility Disorders / congenital
  • Ciliary Motility Disorders / diagnostic imaging*
  • Encephalocele / congenital
  • Encephalocele / diagnostic imaging*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Polycystic Kidney Diseases / diagnostic imaging*
  • Polydactyly*
  • Pregnancy
  • Rare Diseases
  • Retinitis Pigmentosa / congenital
  • Retinitis Pigmentosa / diagnostic imaging*
  • Ultrasonography, Prenatal

Supplementary concepts

  • Meckel syndrome type 1