| Literature DB >> 31406624 |
Hatice Mutlu-Albayrak1, Çağrı Damar2, Gürkan Gürbüz3.
Abstract
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.Entities:
Keywords: asymmetric crying face; esophageal atresia; thenar hypoplasia
Year: 2019 PMID: 31406624 PMCID: PMC6688878 DOI: 10.1055/s-0039-1684028
Source DB: PubMed Journal: J Pediatr Genet ISSN: 2146-460X