Year : 2014  |  Volume : 6  |  Issue : 2  |  Page : 118-121

Oral-facial-digital syndrome type 1: Report of a case

1 Department of Diagnostic Sciences, Division of Oral Diagnosis, Newark, USA
2 Division of Oral and Maxillofacial Radiology, Newark, USA

Correspondence Address:
Peter W Duda
Department of Diagnostic Sciences, No. D-860, Rutgers School of Dental Medicine, 110 Bergen Street, Newark, NJ 07101
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-8844.143055

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Oral-facial-digital syndrome (OFD) is a collective term describing thirteen distinctive, rare genetic disorders based on inheritance pattern and phenotypic expression. OFD is characterized by malformations of the oral cavity, the maxillofacial region and the arms and legs. Central nervous system anomalies, include intracerebral cysts, agenesis of the corpus callosum, hydrocephalus, cerebral/cerebellar atrophy, and berry aneurysms. Some degree of compromised intellectual ability and speech are present in affected individuals that correlate with the degree of central nervous system involvement. Furthermore, renal involvement in the form of polycystic kidney disease is evident in affected individuals in adulthood. In this article, we present a 37-year-old female patient that presented to the Rutgers School of Dental Medicine with oral-facial-digital syndrome, type 1.

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