American journal of medical genetics. Part A · 2026
Fracture Prevalence Among Those With Hypermobility Spectrum Disorder/Hypermobile Ehlers-Danlos Syndrome.
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Tinkle Brad T
Аннотация
Previous series have questioned bone fragility in those with hypermobility spectrum disorders (HSD) or hypermobile Ehlers-Danlos syndrome (hEDS). These conclusions have been extrapolated to infants and children often in the setting of suspected child abuse. Few studies address this in non-ambulatory children, leaving medical professionals and the courts alike to debate the reported observations. One hundred patients with HSD/hEDS were recruited from a large hypermobility clinic. Each was required to have a guardian/parent present to attest to the fracture history for the entire age of the individual. Each was asked for the number of fractures, age at incident for each, and qualitative data regarding the mechanism of injury. Those experiencing a fracture in their lifetime were 55.6% (55/99). Only two fractures were recorded in the infantile period. There was only one rib fracture from trauma and no skull fractures. While fracture prevalence was higher than expected in ambulatory individuals with HSD/hEDS, no fractures occurred within the first year of life not known from the birthing process. The pattern of fractures was consistent with that normally seen in childhood. Qualitative data suggest no significant evidence of fragility fractures, especially in non-ambulatory children.