Glamuzina Emma, Aftimos Salim, Keesing Melissa, Mahadevan Murali
Northern Regional Genetic Services, Starship Children's Hospital, Building 30, Private Bag 92024, Grafton, Auckland 1010, New Zealand.
Int J Pediatr Otorhinolaryngol. 2009 Oct;73(10):1464-6. doi: 10.1016/j.ijporl.2009.06.010. Epub 2009 Jul 24.
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.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种与多种先天性畸形相关的X连锁过度生长障碍。我们报告了一名患有典型SGBS面部和内脏表现的儿童。此外，还存在复杂的气道异常、吞咽困难及相关支气管扩张，这些情况此前未曾有过描述。该病例凸显了对患有这种过度生长综合征的儿童进行全面气道和吞咽评估的重要性。
