title: Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
abstract: A male infant delivered spontaneously at the 29th week of pregnancy had gross tetraphocomelia and features of the Waardenburg syndrome. There were no relevant factors in the pregnancy nor family history. It is possible that microdeletions or contiguous gene defects are involved in the pathogenesis of these malformations.
authors.affiliation: Divisions of Pathology Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town, South Africa.
authors.forename: Hue-Tsi
authors.initials: HT
authors.lastname: Wu
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*; D001344:Autopsy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014849:Waardenburg Syndrome / Q000235:genetics*