• Am. J. Med. Genet. A · Jun 2020

    Mowat-Wilson syndrome in a Chinese population: A case series.

    • Stephanie Ho, Ho-Ming Luk, Brian Hon-Yin Chung, Jasmine Lee-Fong Fung, Harriet Hang-Yee Mak, and Ivan F M Lo.
    • Clinical Genetic Service, Department of Health, HKSAR, Hong Kong.
    • Am. J. Med. Genet. A. 2020 Jun 1; 182 (6): 1336-1341.

    AbstractMowat-Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and genitourinary malformation appeared to be lower. This suggests possible ethnicity-related modifying effects in the MWS phenotype.© 2020 Wiley Periodicals, Inc.

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