# Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome
## 3 Results
### Body Composition and Bone Health  
Body composition parameters of the total sample are shown in Table 2. Two of six children and adolescents were considered to be underweight and one was at risk of overweight based on the percentile of BMI for age [29]. Similarly, two of three adults with CdLS were considered to be underweight and one at risk of overweight by BMI (according to World Health Organization BMI categories (18.5 to \(<\)25, 25 to \(<\)30, and \(\geq\)30 kg/m\({}^{2}\))). We also used FMI and LMI for a better understanding of body composition assessment of individuals with CdLS. One adolescent was classified as having high adiposity (\(\geq\)75 th percentile) [30; 31] and three adults were classified as having low adiposity (\(<\)25 th percentile) [31]. Perhaps more importantly, seven out of nine had low levels of lean body mass (LMI \(<\) 25 th percentile). Table 3 shows the bone health parameters. For TBLH, when BMD Z-scores were adjusted for height for age Z-score of children and adolescents, only two of nine individuals (an adolescent and an adult) had low BMD (Z-score of \(-\)2.0 SD or lower). For LS, only one adult with CdLS felt into the low BMD category. \begin{table}
\begin{tabular}{l|c c|c c c c c c c c} \hline \hline
**Individual** & **I** & **II** & **III** & **IV** & **V** & **VI** & **VII** & **VIII** & **IVB** \\ \hline \hline Age (years) & 4.7 & 5.4 & 14.1 & 15.1 & 15.5 & 17.5 & 22.5 & 31.2 & 57.9 \\ Gender & M & P & M & P \begin{table}
\begin{tabular}{l|c c c|c c c c|c c c} \hline
**Individual (Gender-Age (Years))** & **1 (M-4-7)** & **II (9-5-4)** & **III (M-14-1)** & **V (0-15-10)** & **V (0-15-5)** & **V (10-17-9)** & **VII (M-23-3)** & **VIII (0-51-2)** & **X (0-37-9)** \\ \hline Height (cm) & 93.8 & 112.1 & 130.0 & 148.8 & 155.3 & 166.0 & 157.0 & 143.2 & 148.3 \\ Height (Z-score) & -3.1 & 0.2 & -3.9 & -2.0 & -1.0 & -1.3 & - & - & - \\ Weight (kg) & 11.9 & 19.5 & 43.1 & 40.2 & 55.8 & 49.8 & 44.2 & 36.0 & 62.8 \\ BMI (kg/m) & 13.5 & 15.5 & 25.5 & 18.2 & 23.1 & 18.0 & 17.9 & 17.6 & 28.6 \\ BMI (Z-score) & -2.1 & 0.3 & 1.5 & -0.7 & 0.8 & -1.6 & - & - & - \\ BMI percentile1 & 2 & 60 & 94 & 24 & 79 & 5 & & & \\ FM (kg) & 4.1 & 6.2 & 18.7 & 15.2 & 19.4 & 9.3 & 9.9 & 12.1 & 23.0 \\ FM (kg) & 34.1 & 31.8 & 43.9 & 38.2 & 33.2 & 19.0 & 23.6 & 33.8 & 37.0 \\ Turnl FM (kg) & 1.3 & 2.0 & 8.4 & 6.0 & 7.7 & 3.2 & 4.0 & 4.6 & 12.2 \\ Appendider FM (kg) & 2.2 & 3.5 & 9.6 & 8.5 & 10.8 & 5.3 & 5.2 & 6.7 & 10.0 \\ Appendider FM (kg/m\({}^{2}\)) & 2.5 & 2.8 & 5.7 & 3.9 & 4.5 & 1.9 & 2.1 & 3.3 & 4.5 \\ FM (kg/m\({}^{2}\)) & 4.6 & 4.9 & 11.1 & 6.9 & 8.1 & 3.4 & 4.0 & 5.9 & 10.5 \\ FM classification2 & Normal & Normal & High & Normal & Normal & Low & Low & Low & Normal \\ FM Z-score 3 & 0.02 & -0.49 & 1.53 & -0.15 & 0.21 & -12.0 & -10.7 & -12.0 & 0.10 \\ LM (kg) & 7.4 & 12.5 & 22.8 & 23.2 & 36.9 & 38.0 & 30.4 & 22.3 & 37.2 \\ Turnl LM (kg) & 62.3 & 64.4 & 53.3 & 58.4 & 63.4 & 77.1 & 72.3 & 62.6 & 59.9 \\ Turnl LM (kg) & 3.3 & 5.6 & 11.2 & 11.7 & 18.8 & 19.4 & 15.6 & 11.7 & 20.5 \\ Appendider LM (kg/m\({}^{2}\)) & 2.4 & 4.4 & 9.1 & 9.1 & 15.2 & 15.7 & 12.2 & 8.0 & 13.9 \\ Appendider LM (kg/m\({}^{2}\)) & 2.7 & 3.5 & 5.4 & 4.2 & 6.3 & 5.7 & 4.9 & 3.9 & 64.4 \\ LM (g/m\({}^{2}\)) & 8.4 & 9.9 & 13.5 & 10.6 & 15.4 & 13.8 & 12.3 & 10.9 & 17.0 \\ LM classification2 & Low & Low & Low & Low & Normal & Low & Low & Normal \\ LMZ-score 3 & -3.66 & -2.06 & -1.63 & -3.26 & 0.17 & -2.47 & -3.76 & -3.69 & 0.41 \\ \hline \end{tabular}
\end{table} 
Table 2: Body composition measurements of study sample. Determination of calcium, phosphorus, 25-OH-vitamin D, PTH, and ALP levels was not possible for one child with CdLS due to inconvenience in the process of blood collection. For the remaining group, calcium, phosphorus, 25-OH-vitamin D, PTH, and ALP levels were 2.08-2.49 nmol/L, 2.10-3.75 nmol/L, 39.94-78.37 nmol/L, 23.4-80.3 pg/mL, and 43-203 IU/L, respectively.