Levetan Candice, Van Gils Julien, Saba Alicia, Rodríguez-Fonseca Cristina, Fieggen Karen, Tooke Lloyd
Department of Paediatrics, University of Cape Town, Cape Town, South Africa.
Medical Genetics Department, Bordeaux University, Bordeaux, France.
J Pediatr. 2022 Oct;249:106-110. doi: 10.1016/j.jpeds.2022.06.038. Epub 2022 Jul 5.
This web-based survey of 311 respondents from 25 countries provides additional information about the early presentation of Rubinstein-Taybi syndrome. Most (86%) infants present during the neonatal period, with 69% of these within 24 hours of life. Prolonged hospital stay is common (61%).
这项基于网络的调查涵盖了来自25个国家的311名受访者,提供了有关鲁宾斯坦-泰比综合征早期表现的更多信息。大多数(86%)婴儿在新生儿期发病,其中69%在出生后24小时内发病。住院时间延长很常见(61%)。