5 avr. 1951 - Waardenburg syndrome

Description:

PJ Waardenburg; Dutch ophthalmologist and geneticist who first described the condition

The major manifestations of this syndrome include:

pigmentation changes
hair: premature graying, characteristic white forelock (poliosis)
eyes: eyes with two different color irises (complete heterochromia irides), eyes with one iris having different colors (sectoral heterochromia irides), very pale or striking blue eyes
skin: patchy hypopigmented lesions
lateral displacement of the inner canthi of the eyes secondary to a prominent nasal root.
varying degrees of congenital sensorineural deafness (occurs in one in five patients)
neurologic manifestations
peripheral neuropathy
cerebellar ataxia
mental retardation

Ajouté au bande de temps:

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