Literature DB >> 31406624

Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face.

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


  9 in total

1.  Increased rate of major birth malformations in infants with neonatal "asymmetric crying face": a hospital-based cohort study.

Authors:  Gal Dubnov-Raz; Paul Merlob; Karen Geva-Dayan; Danith Blumenthal; Yaron Finkelstein
Journal:  Am J Med Genet A       Date:  2007-02-15       Impact factor: 2.802

2.  Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.

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Journal:  Am J Med Genet       Date:  1998-10-12

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Journal:  Am J Med Genet       Date:  1997-08-08

Review 4.  Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.

Authors:  E Lahat; E Heyman; A Barkay; M Goldberg
Journal:  J Child Neurol       Date:  2000-12       Impact factor: 1.987

5.  An "epidemic" of congenital facial paresis and heart disease.

Authors:  G G Gayler
Journal:  Pediatrics       Date:  1967-10       Impact factor: 7.124

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Authors:  Y Aslan; H Mocan; E Erduran; M Aynaci; A Okten
Journal:  Turk J Pediatr       Date:  1996 Apr-Jun       Impact factor: 0.552

7.  Associated anomalies in cases with esophageal atresia.

Authors:  Claude Stoll; Yves Alembik; Beatrice Dott; Marie-Paule Roth
Journal:  Am J Med Genet A       Date:  2017-06-03       Impact factor: 2.802

8.  Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association.

Authors:  Elisabeth M de Jong; Janine F Felix; Jacqueline A Deurloo; Marieke F van Dooren; Daniël C Aronson; Claudine P Torfs; Hugo A Heij; Dick Tibboel
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2008-02

9.  Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening.

Authors:  Christina Pasick; Donna M McDonald-McGinn; Christine Simbolon; David Low; Elaine Zackai; Oksana Jackson
Journal:  Clin Pediatr (Phila)       Date:  2013-10-17       Impact factor: 1.168

  9 in total

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