Prenatal Diagnosis of Agnathia/Otocephaly: Associations and Outcomes-Large Case Series and Review of Literature

Agnathia/Otocephaly is a rare lethal syndrome characterised by mandibular hypoplasia/aplasia, ventromedial malposition or fusion of ears, microstomia and microglossia/aglossia. We present 26 cases of prenatally diagnosed agnathia/otocephaly, the largest published series so far, with a broad review of available literature and updated concepts on the etiopathogenesis. This is a retrospective case series identified between May 2000 and April 2018 in a tertiary fetal medicine centre in South India where we evaluated the ultrasound features of agnathia/ otocephaly and assessed the associated anomalies and syndromes. Out of 26 cases identified, 42% were isolated and 58% were associated with other anomalies. The most common associations were skeletal (7) followed by central nervous system anomalies (4) and genitourinary anomalies (2). Syndromes identified were Nager acrofacial dysostoses, Treacher Collins, Al Awadi Raas Rothschild and Femoral Facies syndrome. A simple method of observing the mandibular dot in-line with the maxilla in the sagittal view and the absence of the same would help to raise the suspicion of agnathia/severe micrognathia. The difference between these two and syndromic associations may not be brought out in ultrasound. Postnatal clinical assessment or pathologic diagnosis is mandatory as it helps in the counselling process and in the guidance of subsequent pregnancies.