Multiple malformations: a possible Sonic hedgehog phenotype?

Virchows Arch. 2009 Mar;454(3):345-7. doi: 10.1007/s00428-009-0735-9. Epub 2009 Feb 10.

Abstract

A malformed foetus delivered after 21-week gestation had multiple gross craniofacial, midline and limb abnormalities. At autopsy, obstructive hydrocephalus and colonic atresia were observed. Radiographs revealed extensive epiphyseal stippling which might indicate abnormalities of sterol synthesis. The pattern of malformation in this foetus is similar to the phenotype for mutations in the Sonic hedgehog gene in animal models. It can be speculated that the abnormalities in the foetus could have resulted from disruption of the Sonic hedgehog pathway by molecular, chromosomal or environmental factors.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Fetus
  • Hedgehog Proteins* / genetics
  • Humans
  • Phenotype

Substances

  • Hedgehog Proteins
  • SHH protein, human