Acrofacial dysostosis with microtia-anotia: Nager syndrome in reconstructive plastic surgery

Abstract

Microtia-anotia is a congenital anomaly of the ear encountered commonly by a plastic and reconstructive surgeon. Although it may be seen as an isolated condition, microtia-anotia may be part of a syndrome such as mandibulofacial synostosis. A very rare condition however is the preaxial acrofacial synostosis, or Nager syndrome (NS), with which the plastic and reconstructive surgeon may not be familiar. Less than 100 NS cases have been reported to date, mostly including major mandibulofacial anomalies. We hereby report the first case from the Mediterranean region of a late microtia-anotia exhibiting specific anomalies resembling a mild form of NS. Through systemic examination, we also identified in combination a cardiac anomaly (ventricular noncompaction cardiomyopathy) that has not been previously linked to this syndrome in the literature, hence the first report of this cardiac anomaly in NS. Level of Evidence: Level IV, case report.