title: Multiple malformations: a possible Sonic hedgehog phenotype?
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.
authors.affiliation: Division of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, 7925, Cape Town, South Africa.
authors.forename: Helen
authors.initials: H
authors.lastname: Wainwright
authors.forename: Peter
authors.initials: P
authors.lastname: Beighton
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D005333:Fetus; D053823:Hedgehog Proteins / Q000235:genetics; D006801:Humans; D010641:Phenotype
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human