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Orofaciodigital Syndrome Type III in Two Sibs

Overview
Journal J Med Genet
Specialty Genetics
Date 1993 Oct 1
PMID 8230165
Citations 1
Authors
R A Smith
D Gardner-Medwin
Affiliations
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Abstract

A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert's syndrome is discussed. If OFD III syndrome is to be recognised as a distinct entity, these two cases represent the second and third cases reported.

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