Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
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.
Wu
Hue-Tsi
HT
Divisions of Pathology Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town, South Africa.
Wainwright
Helen
H
Beighton
Peter
P
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*