TY - JOUR
T1 - An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry
AU - Penders, Bas
AU - Dijk, Dieuwerke R.
AU - Bocca, Gianni
AU - Zimmermann, Luc J. I.
AU - van Ravenswaaij-Arts, Conny M. A.
AU - Gerver, Willem-Jan M.
N1 - Publisher Copyright:
© 2019 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.
PY - 2019/8
Y1 - 2019/8
N2 - 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.
AB - 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.
KW - body proportions
KW - CHARGE syndrome
KW - growth
KW - photogrammetric anthropometry
KW - ENDOCRINE
KW - MUTATIONS
KW - OVERLAP
KW - GROWTH
KW - UPDATE
U2 - 10.1002/ajmg.a.61215
DO - 10.1002/ajmg.a.61215
M3 - Article
C2 - 31134750
SN - 1552-4825
VL - 179
SP - 1459
EP - 1465
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
IS - 8
ER -