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.

Leukocoria

An abnormal white reflection from the pupil rather than the usual black reflection.


合計: 1

                       


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PMID (PMCID)
11992879
 FEMALE
Retinoblastoma metastatic to the ovary in a patient with Waardenburg syndrome.
Moshfeghi DM, Wilson MW, Haik BG, Hill DA, Rodriguez-Galindo C, Pratt CB.
Am J Ophthalmol. 2002;133(5):716-8.
Unilateral retinoblastoma was diagnosed in a 3-year-old girl with Waardenburg syndrome and leukocoria in the right eye.