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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » B » Blepharoptosis/genetics/ physiopathology

Blepharoptosis/genetics/ physiopathology

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1. Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?

This case report discusses the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints in a brother and sister

Abstract:

We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait. more...

International Classification:

Diseases of the ear and mastoid process - Report

Categories:

sensorineural deafness

Geography:

Republic of Ireland

Am J Med Genet A, Vol: 122A Page: 84-8 September 2003
W. Reardon; M. McGinn; M. D. King; M. Earley

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