Ring chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.
Introduction A meta-analysis showed that 63.6% of the Saudi population have vitamin D deficiency, including many pregnant women. Studies showed that maternal vitamin D deficiency during pregnancy is a risk factor for low birth weight (LBW) in neonates. Neonatal LBW is a risk factor for multiple neonatal complications including respiratory distress syndrome, necrotizing enterocolitis, chronic renal disorders, seizures, and sepsis. Our objective in this study is to determine a correlation between low maternal vitamin D level and neonatal LBW in Saudi Arabia. Methods Neonates (n = 119) were divided based on their gestational age (GA) into full-term neonates (≥37 weeks) and preterm neonates (< 37 weeks) and based on birth weight into normal birth weight neonates (full-term = 2,500-3,500 g or preterm > 10th percentile) and LBW neonates (full-term < 2,500 g or preterm < 10th percentile). Vitamin D deficiency is defined as 25- hydroxyvitamin D level less than 50 nmol/L. Results Correlating neonatal birth weight with maternal vitamin D level during pregnancy was statistically insignificant for both full-term neonates and preterm neonates. In contrast, comparing the mean maternal vitamin D levels in each neonatal group showed that the mean were higher in mothers of neonates with normal birth weight. Conclusion Because 87.4% of mothers had low vitamin D levels during their pregnancy, correlation between maternal vitamin D level and LBW in neonates could not be found. However, mean maternal vitamin D levels were higher in mothers with normal birth weight neonates. Therefore, further detailed studies are required to establish local guidelines about the treatment of vitamin D deficiency during pregnancy.
