Publication

Abstract : Oral-facial-digital syndrome type 1 (OFD1) is characterized by an X-linked dominant mode of inheritance with lethality in males. It presents with peculiar malformations in the oral cavity and defects in the face and digits of the upper and lower extremities. Accurate diagnosis following clinical investigations by allied health professionals is indispensable to plan out a systematic management protocol in these victims in order to minimize future odontogenic problems. This report presented a unique case of females in a family suffering from manifestations of OFD1 syndrome since three generations. The characteristic clinical features of all the female members were promptly identified, investigated and the inter-disciplinary management protocol that was systematically instituted is depicted in this report.