Otocephaly: prenatal sonographic diagnosis.

Otocephaly is a rare and often lethal, nonfamilial syndrome characterized by severe mandibular hypoplasia or agnathia, ventromedial displacement of external ear structures (synotia), microstomia (small mouth), and severe hypoplasia of the tongue (aglossia).1 It has been designated the most extreme of the first and second branchial arch defects.2 Thus far, cases in the literature have been associated not only with craniofacial anomalies but also with various other anomalies of morphogenesis. To date prenatal diagnosis of otocephaly has been reported only sporadically and mostly in the third trimester of pregnancy.3–7 We describe a case of prenatal detection of otocephaly using high resolution, real-time ultrasonography; the case was diagnosed at 19 weeks 5 days of gestation and confirmed at autopsy. Pathologic correlation clearly confirmed the existence of isolated agnathia and synotia as the only indications of the syndrome complex, with neither brain nor other organ defects detected. CASE REPORT