Growth charts for children with Ellis-van Creveld syndrome
Sabine Verbeek1, Paul H C Eilers, Kate Lawrence
1Department of Pediatrics, Groene Hart Ziekenhuis, PO Box 1098, Gouda, The Netherlands. sabineverbeek@hotmail.com
Insights
New growth charts for Ellis-van Creveld (EvC) syndrome patients provide crucial tools for monitoring growth and detecting growth hormone deficiency. These charts aid clinicians in better managing EvC patients from birth through young adulthood.
Area of Science:
- Genetics and Human Development
- Pediatric Endocrinology
- Clinical Genetics
Background:
- Ellis-van Creveld (EvC) syndrome is a rare genetic disorder characterized by significant congenital malformations and severe growth retardation.
- Accurate growth monitoring is essential for managing EvC patients, but standard growth charts are inadequate due to the syndrome's unique growth patterns.
Purpose of the Study:
- To develop specific growth charts for Ellis-van Creveld syndrome patients.
- To facilitate improved growth follow-up and earlier identification of atypical growth patterns in EvC.
- To aid in the early detection of growth hormone deficiency, a known complication of EvC.
Main Methods:
- Utilized 235 observations from 101 EvC patients (49 males, 52 females) aged 0-20 years.
- Compiled longitudinal and cross-sectional data from existing literature, patient databases, and prior reviews.
- Employed the GAMLSS package within the R statistical program to model the growth charts.
Main Results:
- Developed distinct growth charts for male and female EvC patients.
- Compared EvC patient height to healthy Dutch children, revealing mean height standard deviation scores of -3.1 for males and -3.0 for females.
- Presented data on both age and square root of age scales for comprehensive analysis.
Conclusions:
- The newly derived EvC-specific growth charts are valuable tools for clinical follow-up.
- These charts will enhance the ability to detect growth deviations and potential growth hormone deficiency in EvC patients.
- Improved growth monitoring can lead to more timely and effective interventions for affected individuals.
Abstract:
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.
