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Mowat–Wilson syndrome in a Chinese population: A case series
Author(s) -
Ho Stephanie,
Luk HoMing,
Chung Brian HonYin,
Fung Jasmine LeeFong,
Mak Harriet HangYee,
Lo Ivan F. M.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61557
Subject(s) - microcephaly , medicine , incidence (geometry) , genitourinary system , pediatrics , disease , heart disease , congenital malformations , pathology , genetics , biology , pregnancy , physics , optics
Mowat–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.