Mutlu-Albayrak Hatice, Damar Çağrı, Gürbüz Gürkan
Department of Pediatric Genetics, Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey.
Department of Pediatric Radiology, Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey.
J Pediatr Genet. 2019 Sep;8(3):160-162. doi: 10.1055/s-0039-1684028. Epub 2019 Apr 1.
Asymmetric crying face (ACF) is a minor congenital anomaly that is often associated with a high rate of major malformations and may be considered an indication of a syndromic clinical presentation. Here, we report a 21-month-old male presenting with left- sided ACF, thenar hypoplasia, and esophageal atresia. Ultrasonographic images of the volar surface of the left hand evidenced the absence of muscle tissue around the thenar prominence at the level of the first metacarpal bone. No pathogenic copy number variation was detected on array-comparative genomic hybridization analysis (CGH). The association of esophageal atresia, thenar hypoplasia, and ACF has not been reported before. We discuss the possibility of a distinct association or of a sequence of anomalies associated with ACF.
不对称哭脸（ACF）是一种轻微的先天性异常，常与较高的严重畸形发生率相关，可能被视为综合征临床表现的一个指征。在此，我们报告一名21个月大的男性，表现为左侧ACF、大鱼际发育不全和食管闭锁。左手掌面的超声图像显示第一掌骨水平的大鱼际隆起周围无肌肉组织。在阵列比较基因组杂交分析（CGH）中未检测到致病拷贝数变异。食管闭锁、大鱼际发育不全和ACF的关联此前未见报道。我们讨论了与ACF相关的独特关联或异常序列的可能性。
