Isolated Agnatia
Ricardo Ávila Reyes*, Mariana Herrera Penn, Rocío Isabel Camacho Ramírez and Nora Inés Velázquez Quintana
Introduction: Agnathia-otocephaly is a rare, often sporadic, complex and lethal malformation. It is characterized by absent or underdeveloped mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the auricles and sometimes holoprosencephaly. Mandibulofacial development originates primarily from the first pharyngeal arch. A blastogenesis defect in neural crest cell migration may result in incomplete development of the medial nasal process of the first pharyngeal arch, leading to an association of otocephaly with anomalies involving the ears, mouth and jaw. Case Report: Full-term male with initial diagnosis of micrognathia and low implantation of the auricles. Isolated agnathia without a midline defect, orotocephaly, was confirmed. The respiratory distress was resolved with tracheostomy and feeding by gastrostomy, and the patient was discharged and referred to a tertiary center for jaw reconstruction. Discussion: Postnatal diagnosis of agnathia is made by three-dimensional computed tomography imaging or three-dimensional bone surface reconstruction. Unfortunately, these patients have a poor prognosis and may die shortly after birth due to respiratory problems if proper airway management is not implemented. However, optimal airway support, especially when there is no significant midline compromise, can lead to survival, followed by surgical jaw reconstruction interventions and subsequent rehabilitation.
