title: A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices.
abstract: 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.
authors.forename: Naci
authors.initials: N
authors.lastname: Oner
authors.forename: Umit Nusret
authors.initials: UN
authors.lastname: Başaran
authors.forename: Omer
authors.initials: O
authors.lastname: Yalçin
authors.forename: Ulfet
authors.initials: U
authors.lastname: Vatansever
authors.forename: Betül
authors.initials: B
authors.lastname: Acunaş
mesh_terms: D000015:Abnormalities, Multiple; D003241:Consanguinity; D003937:Diagnosis, Differential; D003964:Diaphragm / Q000002:abnormalities*; D004423:Ear / Q000002:abnormalities; D005146:Facial Asymmetry / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome