AI Article Synopsis
- Hypochondroplasia (HCH) is a rare skeletal condition leading to mild short stature, with limited growth reference charts available for affected children.
- Researchers collected anthropometric data from 188 children diagnosed with HCH across 14 European centers, generating height, weight, and head circumference growth charts using advanced statistical models.
- The resulting growth charts, which include centiles from 2nd to 98th, are crucial for clinical care, helping to identify other health issues impacting growth and serving as benchmarks for future research trials.
Article Abstract
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH. Mixed longitudinal anthropometric data and genetic analysis results were collected from 14 European specialized skeletal dysplasia centers. Growth charts were generated using Generalized Additive Models for Location, Scale, and Shape. Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagnosis of HCH aged 0-18 years. Of the 84 children who underwent genetic testing, a pathogenic variant in FGFR3 was identified in 92% (77). The data were used to generate growth references for height, weight, and HC, plotted as charts with seven centiles from 2nd to 98th, for ages 0-4 and 0-16 years. HCH-specific growth charts are important in the clinical care of these children. They help to identify if other comorbidities are present that affect growth and development and serve as an important benchmark for any prospective interventional research studies and trials.
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| http://dx.doi.org/10.1002/ajmg.a.63431 | DOI Listing |
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