New airway and swallow manifestations of Simpson–Golabi–Behmel syndrome

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• 作者：Emma Glamuzina ; Salim Aftimos ; Melissa Keesing ; Murali Mahadevan
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2009
• 出版时间：October 2009
• 年：2009
• 卷：73
• 期：10
• 页码：1464-1466
• 全文大小：185 K

文摘

Simpson–Golabi–Behmel syndrome (SGBS) is an X-linked disorder of overgrowth associated with multiple congenital malformations. We report on a child with typical facial and visceral manifestations of SGBS. In addition there were complex airway anomalies, swallow difficulties and associated bronchiectasis that have not previously been described. The case highlights the importance of comprehensive airway and swallow assessment in children with this overgrowth syndrome.