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Giornale Italiano di Dermatologia e Venereologia 1998 June;133(3):203-6

Copyright © 1998 EDIZIONI MINERVA MEDICA

language: Italian

Familial type 1st Waardenburg’s syndrome

Silvestri T., Colombo E., Delrosso G.

ASL 11 - Vercelli, Ospedale S. Andrea, Divisione di Dermatologia


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Waardenburg’s syndrome is a rare genetically heterogeneous malformation syndrome which is currently classified into four clinical forms that comprise ocular, cutaneous, adnexial, bone and auditory alterations. Hereditary transmission, of the 1st and 2nd type, is of the dominant autosomal form; however, sporadic cases have been described. The marked variability of penetration and expression may create confusion regarding the criteria to be used in diagnosis; Waardenburg himself hypothesized the existence of borderline forms. The authors describe three cases in the same family suffering from type 1st Waardenburg’s syndrome. The father, 51 years old, presents a peculiar nose shape (wide base, Greek-type profile, hypoplasia of wings and rounded tip), canities from the age of 19, perceptive hearing loss in the right ear, monocular heterochromia of the iris, telecanthus. The 18-year-old son presents a similar shaped nose, bushy eyebrows tending to synophrys, telecanthus, bi- and monocular heterochromia of the iris, hypochromic marks on lower limbs, perceptive hearing loss. The 26-year-old daughter presents a similar shaped nose, telecanthus, perceptive hearing loss, limited poliosis in a frontal site. The absence of other subjects suffering from the syndrome in an anamnestic study carried out over four generations supports the hypothesis of a recent mutation in the father.

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