Waardenburg syndrome: A rare case

Oman Journal of Ophthalmology

卷:11

关键词: Hearing loss;    heterochromia;    hypopigmentation;    Waardenburg syndrome;    white forelock;   

DOI  :  10.4103/ojo.OJO_51_2014

来源: DOAJ

【 摘 要 】

Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

【 授权许可】

Unknown