Otocephaly: a case postnatal diagnosed

Otocephaly is characterized by agenesis or severe hypogenesis of the mandible or agnathia, synotia (the external ears horizontally placed and/or fused), microstomia (“small mouth”), aglossia (congenital absence of the tongue). This anomaly is often associated with other malformations as; Holoprosencephaly, anencephaly, congenital heart disease, tracheoesophageal fistula etc. The etiology is unknown. The pathogenetic mechanism seems to be related to a complete failure of the mandibular development, possibly associated with inhibited or arrested migration of neural crest cells. Threedimensional ultrasound is often the only way to obtain an overall idea of the anomaly. The virtually all views of the fetal face are abnormal, due to the complete distortion of the facial anatomy. Otocephaly has been always lethal, so when detected, an accurate counseling of pregnancy should be offered at parents with also the possibility to offer termination of pregnancy. We report the case of a fetus, who was born on the 30th week of pregnancy, and was diagnosed with otocephaly, after birth