Abstract
Aims: To obtain age references for sitting height (SH), leg length (LL), and SH/H ratio in the Netherlands; to evaluate how SH standard deviation score (SDS), LL SDS, SH/H SDS, and SH/LL SDS are related to height SDS; and to study the usefulness of height corrected SH/H cut-off lines to detect Marfan syndrome and hypochondroplasia.
Methods: Cross-sectional data on height and sitting height were collected from 14 500 children of Dutch origin in the age range 0–21 years. Reference SD charts were constructed by the LMS method. Correlations were analysed in three age groups. SH/H data from patients with Marfan syndrome and genetically confirmed hypochondroplasia were compared with height corrected SH/H references.
Results: A positive association was observed between H SDS, SH SDS, and LL SDS in all age groups. There was a negative correlation between SH/H SDS and height SDS. In short children with a height SDS <–2 SDS, a cut-off limit of +2.5 SD leads to a more acceptable percentage of false positive results. In exceptionally tall children, a cut-off limit of –2.2 SDS can be used. Alternatively, a nomogram of SH/H SDS versus H SDS can be helpful. The sensitivity of the height corrected cut-off lines for hypochondroplasia was 80% and for Marfan syndrome only 30%.
Conclusions: In exceptionally short or tall children, the dependency of the SH/H ratio (SDS) on height SDS has to be taken into consideration in the evaluation of body proportions. The sensitivity of the cut-off lines for hypochondroplasia is fair.
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Figure 1.
Sitting height and leg length for age for (A) Dutch boys and (B) Dutch girls aged 0–21 years, indicating the 0,±1,±2,±2.5 SD lines.
Figure 2.
Sitting height/height ratio for age for (A) Dutch boys and (B) Dutch girls aged 0–21 years, indicating the 0,±1,±2, 2.5 SD lines.
Figure 3.
A scatter plot of SH/H SDS versus height SDS.
Figure 4.
A nomogram to assess for a given height SDS the normal range of SH/H SDS, indicating the ellipse, the regression line, and two lines at 2 SDS units away of the regression line. Triangles represent Marfan syndrome, circles represent hypochondroplasia.
Figure 5.
SH/H data of the members of a family, with an HCH mutation in the FGFR3 gene on the maternal side, that caused a mild hypochondroplasia with a variable expression pattern. (A) SH/H index for the index case, her cousin, her mother, her aunt, and grandmother. (B) SH/H index for the brother and an uncle of the index case.
Selected References
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