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J Pediatr Genet 2019; 08(03): 160-162
DOI: 10.1055/s-0039-1684028
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

Hatice Mutlu-Albayrak
1   Department of Pediatric Genetics, Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey
,
Çağrı Damar
2   Department of Pediatric Radiology, Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey
,
Gürkan Gürbüz
3   Department of Pediatric Neurology, Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey
› Author Affiliations
Further Information

Publication History

15 January 2019

21 February 2019

Publication Date:
01 April 2019 (online)

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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.

Keywords

asymmetric crying face - thenar hypoplasia - esophageal atresia
 

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