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Case Reports
. 1987 Feb;24(2):116-8.
doi: 10.1136/jmg.24.2.116.

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum

A A Connacher, C C Forsyth, W K Stewart
Case Reports

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum

A A Connacher et al. J Med Genet. 1987 Feb.

Abstract

We report a female case of orofaciodigital syndrome type I (OFD I) associated with polycystic kidneys and agenesis of the corpus callosum. She had chronic renal failure requiring maintenance dialysis and significant neurological deficits. Her mother had less severe OFD I associated with polycystic kidneys but her renal function was normal and there was no clinical or radiological evidence of a structural abnormality of the brain.

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