Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
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.
D000015:Abnormalities, Multiple / Q000150:complications*; D000328:Adult; D061085:Agenesis of Corpus Callosum; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000150:complications* / Q000235:genetics; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000235:genetics