Clinical and Genetic Characteristics of Williams Syndrome with Congenital Hypothyroidism
XU Yunfei
LI Xiaole
LU Chenlin
SHI Ying
XU Yizhuo
ZHANG Junqing
Abstract：Objective To enhance clinicians' understanding and diagnosis of the disease by analyzing the clinical and genetic characteristics of 10 cases of Williams syndrome with congenital hypothyroidism(CH).Methods The genetic testing and analysis of clinical features and genetic causes were performed on 10 cases of WS with CH treated at the Genetic Metabolism Clinic of the Third Affiliated Hospital of Zhengzhou University.Results All 10 children were diagnosed with CH,with 3 cases being transient CH and 7 cases being permanent CH.The 10 patients exhibited varying degrees of developmental delay and distinctive facial features.Seven patients had cardiac structural abnormalities,5 had inguinal hernias,and 4 male patients had cryptorchidism.All 10 cases had heterozygous deletion mutations in the 7q11.23 region,with deletion fragment lengths ranging from 1.42 to 2.33 Mb.Conclusion All 10 cases of CH present typical features of WS,and the microdeletion in chromosome region 7q11.23 is the primary cause.The close relationship between thyroid dysfunction and WS necessitates considering the possibility of WS during CH screenings.High suspicion should prompt genetic testing to detect and intervene early,thereby improving the patients'quality of life.
Keywords：Williams syndromecongenital hypothyroidismgene analysis
Publication Date：2025-09-28
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：4( 3265-3268 )