Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect

Abstract

Objective: To increase the level of awareness that Ehlers-Danlos/hypermobility syndrome (EDS) and vitamin D deficiency are associated with infantile fragility fractures and radiologic features that may be mistakenly reported to be caused by non-accidental trauma due to Child Abuse and Neglect (CAN).Patients and Methods: We constructed a case series, the largest to date, of infants with EDS who were vitamin D sufficient, insufficient and deficient and infants without EDS but with documented vitamin D deficiency and radiologic evidence of rickets who presented with multiple fractures originally diagnosed as being non-accidental and caused by child abuse. These infants were referred to the outpatient Bone Health Care Clinic at Boston University Medical Campus over a 6-year (2010–2015) period. We also present 6 index cases in which the court concluded that there was no convincing evidence of child abuse and the infants were returned to their parents. Institutional Review Board (IRB) approval was obtained.Results: We present 72 cases of infants with multiple fractures diagnosed to be caused by non-accidental trauma. All infants were younger than one year of age. Among them, 93%(67) had clinical evidence of EDS and/or a family history with a confirmed clinical diagnosis of at least one parent having EDS and the other 7%(5) without evidence of EDS had vitamin D deficiency/infantile rickets. Three of the EDS infants were diagnosed as osteogenesis imperfecta (OI)/EDS overlap syndrome. The most common fractures noted at diagnosis were ribs and extremity fractures (including classic metaphyseal lesions). Serum levels of 25-hydroxyvitamin D [25(OH)D] were reported in 48 infants (18.0 ± 8.5 ng/ml) and in 30 mothers (21.3 ± 11.7 ng/ml). Sixty-three percent (27) of the EDS infants who had their serum 25(OH)D measured were vitamin D deficient 25(OH)D<20 ng/ml and 5 were vitamin D sufficient 25(OH)D>30 ng/ml. The mean serum level for infants with vitamin D deficiency/rickets was (10.2 ± 3.0 ng/ml)Conclusion: EDS, OI/EDS and vitamin D deficiency/infantile rickets are associated with fragility fractures in infants that can be misinterpreted as caused by non-accidental trauma due to child abuse.

Findings of metabolic bone disease in infants with unexplained fractures in contested child abuse investigations: a case series of 75 infants

“…Case series have shown that joint hypermobility and the joint hypermobile form of Ehlers-Danlos syndrome (EDStype 3) are overrepresented in the parents of infants with MUF and in the infants themselves [55,56].…”

Metabolic bone disease risk factors strongly contributing to long bone and rib fractures during early infancy: A population register study

“…EDS and EDS hypermobility type increases the risk of fractures in adults [25, 26] due to low bone mass and abnormal bone structures [25]. A case series suggested that there is an association between parental Ehlers-Danlos/hypermobility syndrome and multiple fractures in infancy [27]. Genome-wide association studies indicate that pediatric bone mass is largely determined by genetics [22], and this aspect is thus of importance for MBD.A skeletal survey is recommended for the evaluation of suspected infant abuse as there is strong evidence to indicate that injury to the long bone and rib fractures are particularly liable to be due to abuse mechanisms [28].…”

Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule

“…Low vitamin D levels without association of radiographic evidence of infantile rickets does not cause fractures (Servaes et al, 2016). The flawed theories that EDS or EDS combined with low vitamin D cause "fragility fractures" (Holick et al, 2017) are not evidence-based, and these diagnoses appear to have stemmed from courtroom defense arguments rather than clinical purposes and practice. Such unfounded theories should not be the basis of expert testimony (Paul, Narang, & Committee on Medical Liability and Risk Management, 2017;Tinkle, 2019).…”

“…The only published case series suggesting that infants with EDS are fragile (Holick, Hossein-Nezhad, & Tabatabaei, 2017) consists entirely of infants previously diagnosed as victims of abuse and does not contain accurate scientific methods, data, legitimate peer-review, or conclusions. However, the false claim that a child has "EDS/OI/EDS and vitamin D deficiency/infantile rickets associated with fragility fractures in infants that can be misinterpreted as … child abuse."…”