Abstract
One-month old, breastfeeding infant, born at term, with normal anthropometric measurements at birth was referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presented with dysmorphic features and heart disease. A metabolic study was conducted on blood and urine yielding results within normal parameters, except for the renal concentration test and acidification test. At six months of age, the patient presented with overgrowth, which along with other clinical signs aroused the suspicion of Sotos syndrome. Molecular genetic testing identified a heterozygous deletion in 5q35 between bands q35.2 and q35.3, affecting the genes NSD1, SLC34A1 and FGFR4, which was compatible with Sotos syndrome and with nephrocalcinosis as a rare association.
Keywords: Sotos syndrome, nephrocalcinosis, NSD1, SCL34A1, FGFR4, case report
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