A case of oro-facial digital syndrome
Ayushi Shashikant Gurharikar, Gagandeep Lamba
Corresponding author: Gagandeep Lamba, Department of Pediatric and Preventive dentistry, VSPM´s Dental College and Research Center, Nagpur, Maharashtra, India 
Received: 11 Apr 2022 - Accepted: 04 Nov 2022 - Published: 22 Nov 2022
Domain: Pediatric Dentistry
Keywords: Orofacial digital syndrome, OFD1 gene mutation, pediatric dentistry
©Ayushi Shashikant Gurharikar et al. Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Cite this article: Ayushi Shashikant Gurharikar et al. A case of oro-facial digital syndrome. Pan African Medical Journal. 2022;43:151. [doi: 10.11604/pamj.2022.43.151.34814]
Available online at: https://www.panafrican-med-journal.com/content/article/43/151/full
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A case of oro-facial digital syndrome
A case of oro-facial digital syndrome
Ayushi Shashikant Gurharikar1,&, Gagandeep Lamba1
&Corresponding author
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).
Figure 1: A) hypertelorism with a flat nasal bridge (yellow arrow) - strabismus or crossed eye (purple arrow) - incompetent lips (red arrow); B) retrognathic mandible; C) white arrow showing syndactyly and blue arrow showing oligodactyly; D) red arrows showing multiple over-retained teeth
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