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Published:
Nov 22, 2022Keywords:
Orofacial digital syndrome; OFD1 gene mutation; pediatric dentistry
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A case of oro-facial digital syndrome
Abstract
An 8-year-old female patient was brought to consultation for poor aesthetics. On clinical examination, oral features included several over-retained carious deciduous teeth and congenitally missing permanent teeth. Extra-oral examination revealed various facial and digital deformities. Facial deformities involved hypertelorism along with flat nasal bridge, strabismus, or crossed eyes - a condition in which the eyes do not line up with one another, incompetent lips and retrognathic mandible. Digital deformities included syndactyly (a congenital condition characterized by the fusion of the bone or skin in the foot digits) and oligodactyly (presence of fewer than five toes).
