A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices
Clinical Dysmorphology, cilt.13, sa.1, ss.59-60, 2004 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 1
- Basım Tarihi: 2004
- Doi Numarası: 10.1097/00019605-200401000-00019
- Dergi Adı: Clinical Dysmorphology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.59-60
- Anahtar Kelimeler: Diaphragm agenesis, Goldenhar syndrome, Hemifacial microsomia, Radius aplasia
- Trakya Üniversitesi Adresli: Evet
Özet
We report the case of a baby girl born to consanguineous parents who died 36 hours after birth. She had multiple preauricular appendices, right radial aplasia, triphalangeal thumb and several other anomalies. Differential diagnosis included Fryns syndrome, Pallister-Killian syndrome, and hemifacial microsomia. However, since our patient had congenital diaphragmatic hernia, a rare finding in hemifacial microsomia we suggest that she had a variant form of hemifacial microsomia or an undescribed new syndrome. © 2004 Lippincott Williams & Wilkins.