Mandibulofacial dysostosis : a case report

Abstract

A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved reporting because of the tender age of the patient. Most reported cases were in considerably older patients. Moreover this is presumably the first case to be described in Malta. The syndrome is described as having clearly established hereditary characters. It is inherited as an autosomal dominant trait with variable penetrance. This variability in penetrance of the gene is shown by the fact that the features of the parents of this child do not show any abnormalities.