Orofaciodigital syndrome type III in two sibs.
Open Access
- 1 October 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (10) , 870-872
- https://doi.org/10.1136/jmg.30.10.870
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.Keywords
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