Jensen-Steed Ginger
Regis University, Denver, Colorado, USA.
Adv Neonatal Care. 2011 Dec;11(6):389-94; quiz 395-6. doi: 10.1097/ANC.0b013e3182338070.
Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future.
特雷彻·柯林斯综合征以英国外科医生爱德华·特雷彻·柯林斯的名字命名，他于1900年首次描述了该综合征的特征。这种罕见的常染色体显性疾病在活产婴儿中的发病率约为1:50000。它主要通过位于5q32 - 33.1位点的TCOF1基因突变影响面部结构的发育。虽然该综合征有常见的面容和表型，但该基因的表达具有广泛的变异性，因此轻度病例的诊断具有挑战性。本研究涉及一名足月女性，她被诊断患有特雷彻·柯林斯综合征，同时还被诊断患有气管食管瘘。预计她智力正常，但正如特雷彻·柯林斯综合征的典型情况一样，她有传导性听力损失，因此有发育迟缓的风险。本文描述了她到目前为止的住院过程和结果，旨在为床边医生未来识别该疾病并指导家庭提供帮助。
