Sixteen neonates with Beckwith-Wiedemann syndrome: a case series report
10.3760/cma.j.issn.2096-2932.2022.02.002
- VernacularTitle:新生儿Beckwith-Wiedemann综合征16例临床分析
- Author:
Huanhuan WANG
1
;
Yun CAO
;
Chao CHEN
;
Wei LU
;
Laishuan WANG
Author Information
1. 国家儿童医学中心，复旦大学附属儿科医院新生儿科，国家卫生健康委员会新生儿疾病重点实验室，上海 201102
- Keywords:
Beckwith-Wiedemann syndrome;
Infant, newborn;
Molecular diagnosis
- From:Chinese Journal of Neonatology
2022;37(2):104-108
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinical features and molecular diagnosis of neonates with Beckwith-Wiedemann syndrome (BWS).Methods:From January 2016 to December 2020, infants admitted to the Department of Neonatology of Children's Hospital of Fudan University with BWS diagnosed during the neonatal period were reviewed. Their clinical data including clinical features, molecular testing results and comorbidities of other congenital diseases were analyzed.Results:A total of 16 BWS neonates (9 males and 7 females) were included, with average gestational age of 34~39 weeks and average birth weight of 2 412~4 275 g. Macroglossia (9/16) and omphalocele (8/16) were the main clinical features. Birth weight >2 SD of the mean (12/16) was the common secondary feature. According to the European BWS diagnostic scoring criteria, 10 infants with a ≥4 score were clinically diagnosed with BWS. 5 infants with a 2~4 score and 1 infant with a 1 score (whose twin brother had a 4 score) were clinically suspected BWS.13 infants received molecular testing. 6 infants with clinical diagnosis and 5 infants with suspected diagnosis were confirmed to have reduced methylation signal in imprint control region 2 and 2 of the clinically diagnosed infants had increased methylation signal in imprint control region 1. 5 infants had atrial septal defect and brain injury were also seen in 5 infants. Abnormal thyroid function, abnormal umbilical cord morphology and abnormal umbilical blood vessels were seen in 4 infants, respectively.Conclusions:The combination of the clinical features and molecular testing can establish the diagnosis of BWS as early as during the neonatal period. Due to the high risk of comorbidities, abdominal ultrasonography, cardiac ultrasonography, cranial MRI and thyroid function tests are necessary after the diagnosis of BWS.
