Table 3.
Comparison of quantitative features between males and females with HDAC8 mutations and classical CdLS
| Parameter | HDAC8 males | HDAC8 females | Classical CdLS |
|---|---|---|---|
| Birth weight | −1.7 (−3 to −0.5, n = 6) | −1.6 (−3.6 to 0, n = 21) | −1.9 (−3.0 to 0.0) |
| Birth length | −2.4 (−4 to −1, n = 5) | −1.9 (−4 to +0.5, n = 17) | −1.5 (−4.3 to +0.7) |
| Birth head circumference | −1.7 (−2.8 to −0.5, n = 2) | −1.8 (−3 to +1.5, n = 12) | −2.0 (−2.8 to −0.9) |
| Subsequent weights | −2.8 (−6.5 to −0.3, n = 7) | −1.4 (−6.5 to +3.0, n = 22) | −4.8 (−10.1 to −1.8) |
| Subsequent heights | −2.8 (−6.6 to +0.4, n = 7) | −2.0 (−4.5 to +0.4, n = 22) | −4.1 (−8.0 to −1.2) |
| Subsequent head circumference | −2.5 (−6.6 to −0.4, n = 7) | −1.9 (−5 to +1, n = 21) | −3.8 (−5.6 to −1.5) |
Growth parameters are noted at the top. Z-scores were calculated using the LMS values from 2000 United States CDC Growth Percentile Data Files (36). Data within the HDAC8 categories are presented as: (Z-score average, minimum-to-maximum range and the number or individuals with available data). Z-scores for classical CdLS data are derived from Kline et al. (37) and represents an average of both sexes at birth and 3 years for the mean and 5th–95th percentile range.