A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices.
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.
Oner
Naci
N
Başaran
Umit Nusret
UN
Yalçin
Omer
O
Vatansever
Ulfet
U
Acunaş
Betül
B
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