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Growth reference charts for children with hypochondroplasia
Moira S Cheung1, Tim J Cole2, Paul Arundel3
1Great Ormond Street Hospital for Children, London, UK.
American Journal of Medical Genetics. Part A
|October 10, 2023
Summary
Growth charts for children with hypochondroplasia (HCH) were developed to address a lack of specific references. These HCH growth charts provide crucial benchmarks for monitoring development and identifying comorbidities.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Hypochondroplasia (HCH) is a rare skeletal dysplasia characterized by mild short stature.
- Existing growth reference charts are inadequate for children diagnosed with HCH.
- Accurate growth monitoring is essential for managing HCH and identifying potential comorbidities.
Purpose of the Study:
- To generate specific growth reference charts for height, weight, and head circumference (HC) in children with HCH.
- To establish benchmarks for assessing growth and development in this population.
- To provide a foundation for future research and clinical trials in HCH.
Main Methods:
- Collection of mixed longitudinal anthropometric data and genetic analysis from 14 European centers.
- Generation of growth charts using Generalized Additive Models for Location, Scale, and Shape.
- Inclusion of data from 188 children (0-18 years) with HCH, with genetic confirmation in 92% identifying FGFR3 variants.
Main Results:
- Developed HCH-specific growth charts for height, weight, and HC.
- Charts include seven centiles (2nd-98th) for ages 0-4 and 0-16 years.
- Data comprised 983 height, 896 weight, and 389 HC measurements.
Conclusions:
- HCH-specific growth charts are vital for clinical management.
- These charts aid in identifying growth-affecting comorbidities.
- They serve as essential benchmarks for interventional research in HCH.
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