Juan D González-Rodríguez, Esther Q Inglés-Torres, José E Cabrera-Sevilla, Salvador Ibáñez-Micó, Francisca Bermejo-Costa, Ascensión Vera-Carbonell, Juan A Bafalliu-Vidal, Pedro Cortés-Mora, Ana Lorente-Nicolás, José María Donate-Legaz
One-month old breastfeeding infant, full-term birth, with normal anthropometric measurements at birth is referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presents dysmorphic features and heart disease. A metabolic study is conducted on blood and urine yielding results within normal parameters, except for renal concentration test and acidification test. At 6 months of age, patient presents overgrowth, which along with other clinical signs arouse suspicion of Sotos Syndrome. Molecular genetic testing detects heterozygous deletion in 5q35 between bands q35...
August 10, 2023: Journal of Clinical Research in Pediatric Endocrinology