A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices
Küçük Resim Yok
Tarih
2004
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Lippincott Williams & Wilkins
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
Hemifacial Microsomia, Goldenhar Syndrome, Diaphragm Agenesis, Radius Aplasia, Hemifacial Microsomia
Kaynak
Clinical Dysmorphology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
13
Sayı
1
