Hong Kong Neo-Noir

Yau, Esther; Williams, Tony

doi:10.1515/9781474412674

Cited by 4 publications

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“…Doctors in primary hospitals may suggest increasing calcium and vitamin D intake for children with WS facing short stature, which unexpectedly increasing the risk of hypercalcemia. WS correlated researches started late in China and there were only limited and small sample reports (Yau et al, 2004). In this study, we conduct a single-center retrospective study to characterize the clinical features of children with WS in China to help clinicians to know more about this disease and strive to alleviate complications and improve the quality of life in these patients and their families.…”

Section: Introductionmentioning

confidence: 99%

Clinical phenotypes study of 231 children with Williams syndrome in China: A single‐center retrospective study

Chen

Yao

et al. 2022

Molec Gen & Gen Med

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Background: Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aims to characterize the clinical phenotypes of Chinese children with WS to help for the early diagnosis and intervention of this disease. Methods: 231 children diagnosed with WS were retrospectively recruited to the study. Clinical data were analyzed to obtain the incidence of different clinical phenotypes. The occurrence of phenotypes and the influence of gender and age on the incidence of different phenotypes were analyzed.Results: All WS exhibited facial dysmorphism (100.0%). The majority had neurodevelopmental disorder (91.8%), hoarseness (87.4%) and cardiovascular anomalies (85.7%). The incidence of short stature (46.9%), inguinal hernia (47.2%), hypercalciuria (29.10%), hypercalcemia (9.1%), subclinical hypothyroidism (26.4%) and hypothyroidism (7.4%) were relatively higher. Gender differences were found in supravalvular aortic stenosis (SVAS, p < .001), ventricular septal defect (VSD, p < .05), inguinal hernia (p < .001), superior pulmonary stenosis (SVPS, p < .05) and neurodevelopmental disorder (p < .05). The incidence of neurodevelopmental disorder in WS increased with age (p < .05

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Section: Introductionmentioning

confidence: 99%