Growth reference charts for children with hypochondroplasia
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....
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| Veröffentlicht in: | American journal of medical genetics. Part A 2024-02, Vol.194 (2), p.243-252 |
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| creator | Cheung, Moira S. Cole, Tim J. Arundel, Paul Bridges, Nicola Burren, Christine P. Cole, Trevor Davies, Justin Huw Hagenäs, Lars Högler, Wolfgang Hulse, Anthony Mason, Avril McDonnell, Ciara Merker, Andrea Mohnike, Klaus Sabir, Ataf Skae, Mars Rothenbuhler, Anya Warner, Justin Irving, Melita |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.63431 |
| format | Article |
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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. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>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.</description><subject>anthropometry</subject><subject>Body height</subject><subject>Body Height - genetics</subject><subject>Body measurements</subject><subject>Bone and Bones - abnormalities</subject><subject>Bone dysplasia</subject><subject>Child</subject><subject>Children</subject><subject>Clinical trials</subject><subject>Comorbidity</subject><subject>Diagnosis</subject><subject>Dwarfism - diagnosis</subject><subject>Dwarfism - genetics</subject><subject>Female</subject><subject>Fibroblast growth factor receptors</subject><subject>Genetic analysis</subject><subject>Genetic screening</subject><subject>growth</subject><subject>Growth Charts</subject><subject>head circumference</subject><subject>height</subject><subject>Humans</subject><subject>Hypochondroplasia</subject><subject>Limb Deformities, Congenital</subject><subject>Lordosis</subject><subject>Osteochondrodysplasias</subject><subject>Prospective Studies</subject><subject>Reference Values</subject><subject>Skeleton</subject><subject>Weight</subject><issn>1552-4825</issn><issn>1552-4833</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNp90T1PwzAQBmALgSgUNmYUiYWBFH_GtpiqCgqoiAVmy3UckpLWwW4U9d_jktKBgcmn06NX5zsALhAcIQjxrV4sP0Z6lBFK0AE4QYzhlApCDvc1ZgNwGsICQgIZz47BgHCBKKPyBNxNvevWZeJtYb1dGZuYUvt1SArnY1nVeewmXRVJuWmcKd0q966pdaj0GTgqdB3s-e4dgveH-7fJYzp7nT5NxrPUUApRmhEoOM-5FYZKzTImRTFHiBItrNSGkYxIo7GUvBAUIcSx0AIXEmZU5IIUZAjSPjd0tmnnqvHVUvuNcrpSu9ZnrKwSmBKaRX_d-8a7r9aGtVpWwdi61ivr2qCw4IwIyAmO9OoPXbjWr-JvFJYIS0glllHd9Mp4F0Jc1X4EBNX2CGp7BKXVzxEiv9yFtvOlzff4d-sR0B50VW03_4ap8fPLdNznfgOQhZGP</recordid><startdate>202402</startdate><enddate>202402</enddate><creator>Cheung, Moira S.</creator><creator>Cole, Tim J.</creator><creator>Arundel, Paul</creator><creator>Bridges, Nicola</creator><creator>Burren, Christine P.</creator><creator>Cole, Trevor</creator><creator>Davies, Justin Huw</creator><creator>Hagenäs, Lars</creator><creator>Högler, Wolfgang</creator><creator>Hulse, Anthony</creator><creator>Mason, Avril</creator><creator>McDonnell, Ciara</creator><creator>Merker, Andrea</creator><creator>Mohnike, Klaus</creator><creator>Sabir, Ataf</creator><creator>Skae, Mars</creator><creator>Rothenbuhler, Anya</creator><creator>Warner, Justin</creator><creator>Irving, Melita</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>24P</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope><orcidid>https://orcid.org/0000-0003-0742-7595</orcidid><orcidid>https://orcid.org/0000-0002-5605-2462</orcidid><orcidid>https://orcid.org/0000-0003-4857-1964</orcidid></search><sort><creationdate>202402</creationdate><title>Growth reference charts for children with hypochondroplasia</title><author>Cheung, Moira S. ; 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| subjects | anthropometry Body height Body Height - genetics Body measurements Bone and Bones - abnormalities Bone dysplasia Child Children Clinical trials Comorbidity Diagnosis Dwarfism - diagnosis Dwarfism - genetics Female Fibroblast growth factor receptors Genetic analysis Genetic screening growth Growth Charts head circumference height Humans Hypochondroplasia Limb Deformities, Congenital Lordosis Osteochondrodysplasias Prospective Studies Reference Values Skeleton Weight |
| title | Growth reference charts for children with hypochondroplasia |
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