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.

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".


Total: 3

                       


(per page)
PMID (PMCID)
27966732
 MALE Child
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
Wang D, Ren GF, Zhang HZ, Yi CY, Peng ZJ.
Genet Mol Res. 2016;15(4):.
Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
27966732
 MALE Child
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
Wang D, Ren GF, Zhang HZ, Yi CY, Peng ZJ.
Genet Mol Res. 2016;15(4):.
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
7573150
 MALE Child
Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.
Sayli BS, Akarsu AN, Altan S.
Am J Med Genet. 1995;58(1):18-20.
Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.