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普拉德-威利综合征中的喉裂:喂养困难和吸入并不总是由低张力引起的。

Laryngeal clefts in Prader-Willi syndrome: Feeding difficulties and aspiration not always caused by hypotonia.

机构信息

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Division of Pediatric Otolaryngology - Head & Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

出版信息

Am J Med Genet A. 2024 Aug;194(8):e63634. doi: 10.1002/ajmg.a.63634. Epub 2024 Apr 15.

Abstract

Feeding difficulties, aspiration, and failure to thrive in infancy are commonly seen in patients with Prader-Willi Syndrome (PWS) and attributed to hypotonia. Patients with PWS and laryngeal clefts were identified by review of medical records at three tertiary care children's hospitals between 2017 and 2022. We present three patients with PWS with feeding difficulties who were also found to have laryngeal clefts which likely contributed to their feeding difficulties. Additional factors such as airway anomalies should be considered in patients with PWS, especially when swallowing dysfunction, dysphagia, or abnormal swallow evaluations are present.

摘要

婴儿期喂养困难、误吸和生长发育迟缓在 Prader-Willi 综合征(PWS)患者中较为常见,其原因通常与低张力有关。通过对 2017 年至 2022 年间三家三级儿童保健医院的病历进行回顾性分析,确定了患有 PWS 和喉裂的患者。我们介绍了 3 例患有 PWS 的喂养困难患者,他们也被发现患有喉裂,这可能导致了他们的喂养困难。对于患有 PWS 的患者,应考虑到其他因素,如气道异常,尤其是在存在吞咽功能障碍、吞咽困难或异常吞咽评估时。

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