Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

MUTLU ALBAYRAK H., DAMAR Ç., GÜRBÜZ G.

JOURNAL OF PEDIATRIC GENETICS, cilt.8, sa.3, ss.160-162, 2019 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1055/s-0039-1684028
  • Dergi Adı: JOURNAL OF PEDIATRIC GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.160-162
  • Anahtar Kelimeler: asymmetric crying face, thenar hypoplasia, esophageal atresia, 22Q11.2 DELETION, ANOMALIES, FACIES
  • Ankara Üniversitesi Adresli: Evet

Özet

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.