Otocephaly: Agnathia-microstomia-synotia syndrome

Abstract

The aim of the study is to present otocephaly, which is a rare congenital lethal malformation. Until this moment, only a little bit more than 100 cases worldwide were reported, and only 22 cases of prediagnosed otocephaly. Background: Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal. Case description: A 499.7 g male fetus was obtained after a therapeutic abortion during the 23rd gestational week at the Center for Maternity and Neonatology, Embryo-fetopathology Clinic, Tunis, Tunisia. The mother is an 18-year-old with close relative marriage with first-degree incest, primigravida. Examination of the fetus revealed microcephaly with craniosynostosis, hypertelorism, closed eyelid exophthalmos, one nostril, point microstomia, mandibular agenesis, bilateral, and auditory cysts of neck. The ears are located at the level of the neck. A study of the brain and the base of the skull revealed holoprosencephaly and sphenoid bone agenesis. There are no internal organ abnormalities. Conclusion: In cases where, at the end of the second trimester of pregnancy, polyhydramnios is detected, inability to visualize the mandible, and malposition of ears, otocephaly should be suspected. In these cases, the decision to interrupt pregnancy should be taken by a multidisciplinary team, after an magnetic resonance imaging, which is much better in visualizing location of the ears and other facial malformations and the presence of other associated anomalies. Clinical significance: Otocephaly (SAMS) is usually incompatible with life, which is why it is important to perform prenatal diagnosis in order to make prognosis for pregnancy.