The Meckel syndrome in the Hutterites

Am J Med Genet. 1980;5(4):373-81. doi: 10.1002/ajmg.1320050408.


At least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.

Publication types

  • Case Reports

MeSH terms

  • Canada
  • Consanguinity
  • Gene Frequency
  • Humans
  • Infant, Newborn
  • Kidney Diseases, Cystic / genetics*
  • Limb Deformities, Congenital
  • Male
  • Meningocele / genetics*
  • Microphthalmos / genetics*
  • Russia (Pre-1917) / ethnology
  • Syndrome