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

AUTOR(ES)

Connacher, A A

RESUMO

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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