Otocephaly (Agnathia)-Situs inversus complex with bilateral absence of mandibular nerves.

Otocephaly is a rare lethal neurocristopathy of first branchial arch, characterized by agnathia (agenesis of mandible), ventro-medial displacement and midline fusion of external ears (synotia), microstomia (small mouth) and aglossia (absence of tongue) or microglossia (small tongue). This anomaly is a consequence of failure of migration of neural crest cells from hind brain which contributes to the development of maxillary and mandibular prominences of the first arch. A female fetus of 28weeks gestation, spontaneously aborted, was received for autopsy. On external examination, the fetus exhibited ventrally placed malformed ears in the neck region, agnathia, microstomia and microglossia. Internal examination revealed situs inversus totalis, atrial septal defect and bilateral absence of mandibular nerves. Our case is unique, and here rendered for publication, due to association of otocephaly with situs inversus totalis in the absence of holoprosencephaly. We discuss current perspectives, literature review and molecular mechanisms implicated in otocephaly complex patterning.

Prenatal 3D-ultrasound diagnosis of Otocephaly and Holoprosencephaly-Cyclopia / 대한산부인과학회지

Otocephaly is a rare malformations comprising hypoplasia or absence of the mandible (agnathia), ventromedial displacement and often fusion of external ears (synotia or otocephaly), and hypoplasia of the oral cavity (microstomia) and tongue (hypoglassia). This developmental complex represents a malformation of the first and second branchial arches and occurs sometimes with holoprosencephaly. We present the ultrasound detection of otocephaly and holoprosencephaly with cyclopia in a fetus of 27 gestational weeks 6 days. The use of three-dimensional (3-D) ultrasound made additional diagnostic ultrasound tomograms possible, and the volume reconstructions improved the imaging and the understanding of the condition.