Ellis-van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 observations of 101 EvC patients (49 males, 52 females), growth charts for males and females from 0 to 20 years of age were derived. Longitudinal and cross-sectional data were collected from an earlier review of growth data in EvC, a database of EvC patients, and from recent literature. To model the growth charts, the GAMLSS package for the R statistical program was used. Height of EvC patients was compared to healthy children using Dutch growth charts. Data are presented both on a scale for age and on a scale for the square root of age. Compared to healthy Dutch children, mean height standard deviation score values for male and female EvC patients were -3.1 and -3.0, respectively. The present growth charts should be useful in the follow-up of EvC patients. Most importantly, early detection of growth hormone deficiency, known to occur in EvC, will be facilitated.

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doi.org/10.1007/s00431-010-1287-3, hdl.handle.net/1765/31724
European Journal of Pediatrics
Erasmus MC: University Medical Center Rotterdam

Verbeek, S., Eilers, P., Lawrence, K., Hennekam, R., & Versteegh, F. (2011). Growth charts for children with Ellis-van Creveld syndrome. European Journal of Pediatrics, 170(2), 207–211. doi:10.1007/s00431-010-1287-3