Abstract
BackgroundGrowth 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.MethodsFor 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.ResultsChildren 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.ConclusionBody 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.
Highlights
CHARGE syndrome (CS; OMIM 214800) is a rare disorder characterized by multiple anomalies
Body proportions were calculated from anthropometric measurements by selecting the anatomical reference points on these photographs using the photometry software Paediatric Morphometrics designed by our research group
Various anthropometric measurements were determined on the photographs: height (H), head length (HeL), biacromial width (BiaW), biiliacal width (BiiW), upper arm length (UaL), lower arm length (LaL), hand length (HaL), tibia length (TiL), and foot length (FoL)
Summary
CHARGE syndrome (CS; OMIM 214800) is a rare disorder characterized by multiple anomalies. Within the first 3 months after birth, their growth rate decreases and patients with CS begin to show significantly lower weight and height than a reference population (Asakura et al, 2008; Blake, Kirk, & Ur, 1993; Dörr, Madeja, & Junghans, 2015; Legendre et al, 2017; Pinto et al, 2005). Cardiac malformations and feeding difficulties are highly prevalent in CS (Blake & Hudson, 2017; Legendre et al, 2017), while growth hormone deficiency and hypothyroidism are found in a minority of patients. Given how little is known about the growth pattern of children with CS, this cross-sectional study was performed to assess body proportions in these children as compared to normally proportioned controls
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