Layman-Pleet Leah, Jackson Carl-Christian A, Chou Shirley, Boycott Kym M
University of Ottawa Medical School, Ottawa, Ontario, Canada.
J Pediatr Surg. 2007 Sep;42(9):E1-3. doi: 10.1016/j.jpedsurg.2007.06.005.
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are common congenital malformations and are associated with additional anomalies in approximately half of cases. Feingold syndrome is an important genetic cause of syndromic EA-TEF to consider in patients with associated microcephaly and digital anomalies. We present a case report of a male infant with EA-TEF, microcephaly, subtle facial dysmorphism, dysplastic kidney, short fifth fingers, second finger clinodactyly, and increased spacing between the first and second toes bilaterally. His clinical presentation was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. Feingold syndrome is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.
食管闭锁（EA）和气管食管瘘（TEF）是常见的先天性畸形，约半数病例伴有其他异常。费因戈尔德综合征是综合征性EA - TEF的一个重要遗传病因，对于伴有小头畸形和手指异常的患者需要考虑。我们报告一例男性婴儿，患有EA - TEF、小头畸形、轻微面部畸形、发育不良的肾脏、第五指短小、第二指尺侧偏斜以及双侧第一和第二趾间距增宽。他的临床表现提示费因戈尔德综合征，MYCN基因的基因检测确诊了该诊断。费因戈尔德综合征是一种常染色体显性疾病，因此，该诊断对遗传咨询具有重要意义。
