Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.

Abstract excerpt

INTRODUCTION: Kohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation. CASE REPORT: Here we report the observation of sibling...

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