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Case Report

Otocephaly: A Rare Congenital Anomaly - A Case report

1Professor & HOD, 2Assistant Professor, 3Lecturer, Department of Anatomy, KAMS&RC, L.B. Nagar, Hyderabad, India.


Otocephaly is rare lethal anomaly of the ventral portion of first branchial arch. The "Oto" Greek word meaning ear and cephaly meaning head; Otocephaly virtual meaning is type of head disorder. Otocephaly is a malformation characterized by Agnathia (agenesis of mandible), Melotia and Synotia (ventro-medial malposition and midline fusion of external ears) Microstomia (small mouth) and Aglossia (absence of tongue) or microglossia (small tongue). This condition is lethal because of poorly functioning airway leading to severe respiratory dysfunction. We hereby present female fetus of 28 weeks gestation, spontaneously aborted having Otocephaly alone with no other associated anomalies. Early diagnosis on routine prenatal radiological checkup, later followed by 3D ultrasound will contribute for more accurate diagnosis because Otocephaly-Agnathia syndrome complex.

Key words: Agnathia, Synotia, Microstomia, Aglossia, First branchial arch