Section of Plastic Surgery, Yale University School of Medicine, New Haven, Connecticut.
Semin Plast Surg. 2012 May;26(2):83-90. doi: 10.1055/s-0032-1320066.
Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.
特雷彻·柯林斯综合征是一种遗传性疾病，导致先天性颅面畸形。患者通常表现为下斜的睑裂、下眼睑缺损、小耳和颧骨及下颌骨发育不良。这种常染色体显性遗传病的表型表达程度不同，患者无相关的发育迟缓或神经疾病。这些患者的护理需要从出生到成年的多学科团队。适当的规划、咨询和手术技术对于优化患者的治疗效果至关重要。本文作者回顾了特雷彻·柯林斯综合征的特征、遗传学和治疗方法。
