Fracture prevalence in children diagnosed with Ehlers-Danlos Syndrome and Generalized Joint Hypermobility
Frances Yeung1, Jennifer Smith1, Roberto Mendoza-Londono2
1Department of Pediatrics, University of Toronto, Canada; Division of Pediatric Medicine, Hospital for Sick Children, Canada.
Insights
Fractures are common in children with Ehlers-Danlos Syndromes (EDS) and Generalized Joint Hypermobility (GJH), typically occurring in limbs from identifiable injuries. This study found no evidence of these conditions causing fractures in infants.
Area of Science:
- Pediatric Orthopedics
- Genetics
- Rheumatology
Background:
- Limited understanding exists regarding the association between Ehlers-Danlos Syndromes (EDS), hypermobility, and fractures in children.
- EDS and hypermobility are frequently cited in legal contexts concerning unexplained infant fractures, raising concerns of physical abuse.
- Further research is needed to clarify fracture patterns in pediatric populations with EDS and hypermobility.
Purpose of the Study:
- To assess fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH).
- To determine fracture prevalence in infants under one year of age within this cohort.
Main Methods:
- Retrospective descriptive study of children (<18 years) diagnosed with EDS or GJH based on the 2017 international classification.
- Data collected included fracture history, location, type, age at fracture, and injury mechanism.
- Children with concurrent medical conditions associated with bone fragility were excluded.
Main Results:
- Fracture prevalence was 34.6% in the EDS group and 25.4% in the GJH group.
- No fractures were observed in infants under one year of age.
- Most fractures occurred in the limbs, resulting from identifiable injury events, with no reported rib or skull fractures.
Conclusions:
- Fractures are common in ambulatory children with diagnosed EDS or GJH, typically in the limbs and linked to identifiable events.
- The findings do not support EDS or GJH as a cause of fractures in infancy.
- This study contributes to understanding fracture etiology in children with connective tissue disorders.
Background:
There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the legal setting as possible causes of unexplained fractures in infants where there is a concern for physical abuse. Further understanding is needed regarding fractures in children with EDS and hypermobility.
Objective:
This study assessed fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH). The secondary outcome was fracture prevalence in infants <1 year of age.
Participants And Setting:
Children aged <18 years with EDS or GJH seen in a single-center EDS clinic from April 2017 to December 2021 were included. Diagnoses were based on the 2017 international classification. Exclusion criteria were concurrent medical conditions associated with bone fragility.
Methods:
This retrospective descriptive study examined variables including fracture history, fracture location, fracture type, age of sustaining fracture, and injury mechanism. Descriptive statistics were used for analysis.
Results:
Fracture prevalence was 34.6 % (9/26, 95 % CI [16.3, 52.9]) in the EDS population and 25.4 % (15/59, 95 % CI [14.3, 36.5]) in the GJH population. No fractures occurred in infancy. Most fractures occurred in the limbs. There were no rib or skull fractures. Most fractures were the result of an identifiable injury event.
Conclusion:
In a cohort of children with formally diagnosed EDS or GJH, fractures occurred commonly in ambulatory children and generally in the limbs from identifiable events. This study does not support EDS or GJH as a cause of fractures in infancy.
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