Agnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report.

ABSTRACT: Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. It can occur alone or in combination with forebrain anomalies and cardiac malformations and has an extremely poor prognosis. Here, we report a case of AOC diagnosed by systemic fetal screening at a gestational age of 25⁺⁴ weeks. Ultrasound revealed that the S-curve formed by the normal lower jaw and lower lip had disappeared, the lower jaw and mandible were invisible, the mouth was extremely small, and the oral fissure was "pinhole-shaped". There was a cone-shaped perioral bulge. Both ears were located in the front side of the neck, and the right foot was inverted.

SUBMITTER: Ji X 

PROVIDER: S-EPMC8429858 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature