Background: Persons with achondroplasia develop early obesity, which is a comorbidity associated with other complications. Currently, there are no validated specific predictive equations to estimate resting energy expenditure in achondroplasia.
Methods: We analyzed the influence of body composition on this parameter and determined whether predictive models used for children with standard height are adjusted to achondroplasia.
Orphanet J Rare Dis
November 2019
Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism. It is characterized by bone growth abnormalities that are well characterized and by a strong predisposition to abdominal obesity for which causes are unknown. Despite having aroused interest at the end of the 20 h century, there are still only very little data available on this aspect of the pathology.
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