Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes.

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 q35.2 and q35.3, affecting genes NSD1, SLC34A1 and FGFR4, which is compatible with this syndrome and with nephrocalcinosis as a rare association.

The weight for length in late preterm infants assessed with bioelectrical impedance is positively associated with anthropometric variables.

INTRODUCTION: The fat mass (FM) is greater in late preterm than full term infants at 1 month post birth, which may be an additional risk factor for metabolic syndrome in adulthood. OBJETIVES: To evaluate body composition (BC) in late preterm infants using bioelectrical impedance analysis (BIA) to determine which anthropometric parameters are associated with BC. Our hypothesis was that weight-for-length is associated with the length-normalized fat mass index (FMI) at 1 year of life. MATERIALS AND METHODS: We carried out a prospective cohort study in 2 groups: late preterm infants and full term infants. We obtained BC data by BIA. We calculated the fat mass (FM), FMI, fat-free mass (FFM) and length-normalized fat-free mass index (FFMI) at 1, 6 and 12 months of life. After, we assessed the association of the FMI with anthropometric parameters using multiple linear regression analysis. RESULTS: The study included 97 late preterm and 47 full term infants, although at 12 months of life, the BC assessment was performed on 66 and 33 infants, respectively. Late preterm infants, compared to full term infants, had a higher FFM at 1 month (4013 vs 3524 g), a higher weight velocity at 6 months (5480 g versus 4604 g) and a lower FFM (7232 vs 7813 g) and FFMI (12.55 vs 13.26) at 12 months of life. The multivariate regression analysis showed that the weight-for-length z-core at 12 months was positively associated with the FMI at 12 months in all infants. CONCLUSION: The weight-for-length z-score at 12 months is strongly associated with the FMI at 1 year of life. Further studies are needed to investigate whether an increment in this anthropometric parameter may modulate the risk of chronic diseases.