European Journal of Molecular & Clinical Medicine

Abstract

Oro facial digital syndrome (OFDS) is a rare congenital disorder which includes a range of clinical anomalies, involving deformities of the oral cavity, face and limbs along with systemic features. The case is a 12-year old Indian girl who had  the classical features of OFDS with sensorineural hearing loss and vertebral abnormalities. Interestingly, her younger sibling also had some of the peculiar features of OFDS.This case report highlights the importance of prudent clinical and radiological findings which aid in early diagnosis of unsuspected and rare conditions as learned in this case, as it may help improve quality of life of the patient.