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

Shur, Natasha; Tinkle, Brad T.; Summar, Marshall; Frasier, Lori D.; Shalaby‐Rana, Eglal; McIntosh, Bruce

doi:10.1002/ajmg.a.61347

Cited by 4 publications

(1 citation statement)

References 23 publications

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“…The diagnosis of rickets, which has a U.S. incidence of around 24 cases per 100,000 (Munns et al, 2016) does not explain fractures unless radiographic criteria are met (Servaes et al, 2016). There is no evidence that Ehlers-Danlos syndrome is associated with infantile fractures (Shur et al, 2019;Tinkle et al, 2017). "Dysphagic choking" and "temporary brittle bone disease" are completely fabricated diagnoses (Leventhal & Edwards, 2017).…”

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confidence: 99%

Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse

Shur

Hinds

Shalaby‐Rana

et al. 2019

American J of Med Genetics Pt A

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Jonathan was a beautiful 6-month-old with bright eyes and a big smile whose parents described him as a happy and easy baby, content with life. There were no prior concerns about his growth and development by his parents or pediatrician. It was therefore completely unexpected when he presented to the hospital in full arrest with a history of choking during a feeding while at daycare. 1 When the ambulance arrived at the daycare, the caregiver was performing cardiopulmonary resuscitation. At the hospital, it was noted that his pupils were fixed and dilated, and he had bruising of his face and neck, not reasonably explained by resuscitation. Subsequent medical evaluations included detailed history taking (history of present illness, past medical history, and family history), physical examinations, and premortem diagnostic testing. American Academy of Pediatrics and American College of Radiology guidelines (Christian, 2015; Wootton-Gorges et al., 2017) were followed. These guidelines are based on decades of the best available medical evidence, designed to appropriately diagnose and differentiate child abuse from other medical conditions. Jonathan died 3 days later despite the best efforts of physicians and nurses at a Level I Pediatric Trauma Center. At the hospital and ultimately upon autopsy, he had extensive bruising to his right forehead, left cheek, right jaw, left lateral neck, right posterior neck, and

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confidence: 99%