Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review


  • Dr. Elias O. Da-Silva

    Corresponding author
    1. Instituto Materno-Infantil de Pernambuco (IMIP) and Department of General Biology, Laboratory of Genetics, Federal University of Pernambuco, Recife, PE, Brazil
    • Instituto Materno-Infantil de Pernambuco (IMIP), Rua dos Coelhos 300, Boa Vista, 50070 Recife, PE, Brazil
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Two large kindreds with Waardenburg I syndrome are described. The total number of affected individuals is 73. The major manifestations are telecanthus (the only constant anomaly in all cases), prominent nasal root, round or square tip of nose, hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys, sensorineural deafness, heterochromia or hypoisochromia iridis, hypopigmented ocular fundus, white forelock, premature greying, and hypopigmented skin lesions. These and other aspects of the syndrome, associated findings, frequency, genetic heterogeneity, pathogenesis, animal models, and gene linkage and mapping are reviewed briefly.