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An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

Penders, B., Dijk, D. R., Bocca, G., Zimmermann, L. J. I., van Ravenswaaij-Arts, C. M. A. & Gerver, W-J. M., Aug-2019, In : American Journal of Medical Genetics. Part A. 179, 8, p. 1459-1465 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Background Growth retardation is one of the main hallmarks of CHARGE syndrome (CS), yet little is known about the body proportions of these children. Knowledge of body proportions in CS may contribute to a better characterization of this syndrome. This knowledge is important when considering starting growth-stimulating therapy. Methods For this cross-sectional study, we selected 32 children with CS and a CHD7 mutation at the Dutch CHARGE Family Day in 2016 or 2017 and the International CHARGE conference in Orlando, Florida, in 2017. We used photogrammetric anthropometry-a measurement method based on digital photographs-to determine various body proportions. We compared these to measurements in 21 normally proportioned children with growth hormone deficiency, using independent-samples t test, Mann-Whitney U test, or chi-square test as appropriate. Results Children with CS appear to have a shorter trunk in proportion to their height, head length, and arm length. Children with CS also had smaller feet proportional to tibia length compared to controls. The change of body proportions with age was similar in children with CS and controls. Conclusion Body proportions in children with CS are significantly different from those of normally proportioned controls, but a similar change of body proportions with age was noted for both groups.

Original languageEnglish
Pages (from-to)1459-1465
Number of pages7
JournalAmerican Journal of Medical Genetics. Part A
Volume179
Issue number8
Early online date2019
Publication statusPublished - Aug-2019

    Keywords

  • body proportions, CHARGE syndrome, growth, photogrammetric anthropometry, ENDOCRINE, MUTATIONS, OVERLAP, GROWTH, UPDATE

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