Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
- 1 February 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (2) , 116-118
- https://doi.org/10.1136/jmg.24.2.116
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.Keywords
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