Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Tetraphocomelia

Phocomelia involving all four extremities.


Total: 2

                       


(per page)
PMID (PMCID)
19188806
 MIXED_SAMPLE Infant, Newborn
Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
Wu HT, Wainwright H, Beighton P.
Clin Dysmorphol. 2009;18(2):112-5.
Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
19188806
 MIXED_SAMPLE Infant, Newborn
Tetraphocomelia with the Waardenburg syndrome and multiple malformations.
Wu HT, Wainwright H, Beighton P.
Clin Dysmorphol. 2009;18(2):112-5.
A male infant delivered spontaneously at the 29th week of pregnancy had gross tetraphocomelia and features of the Waardenburg syndrome.