Tetraphocomelia with the Waardenburg syndrome and multiple malformations.Clin Dysmorphol. 2009 Apr; 18(2):112-5.CD
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.