Body proportions in children with Kabuki syndrome

B. Penders*, N. Schott, W.J.M. Gerver, Constance T.R.M. Stumpel

*Corresponding author for this work

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Facial characteristics, short stature, and skeletal anomalies have been described for the clinical diagnosis of Kabuki Syndrome (KS) in children. However, no studies have investigated body proportions in KS. Knowledge of body proportions in KS may contribute to better insight into the growth pattern and characterization of this genetic disorder. Therefore we compared body proportions of children with KS to normally proportioned controls to investigate if atypical body proportions are part of this genetic disorder. This study was designed and conducted within the setting of the Maastricht University Medical Centre (MUMC+), the official Dutch expert center for Kabuki syndrome. We conducted a cross-sectional study in 32 children (11 children with KS and 21 controls). Body proportions were determined by means of photogrammetric anthropometry, measurements based on digital photography. Body proportions, quantified as body ratios, differ significantly in children with KS from normally proportioned children. Children with KS have larger heads and longer arms proportional to their trunks and have been found to have longer upper arms proportional to their tibia length and feet. Based on deviations in body proportions it was shown possible to discern children with KS from normally proportioned controls. (c) 2015 Wiley Periodicals, Inc.
Original languageEnglish
Pages (from-to)610–614
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Issue number3
Early online date9 Nov 2015
Publication statusPublished - Mar 2016


  • Kabuki syndrome
  • body proportions
  • photogrammetric anthropometry
  • children
  • MLL2
  • AGE

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