If this mother had brought in her son for medical care later in his infancy without prior diagnosis of in utero fractures, these X-ray findings would almost certainly have resulted in the diagnosis of nonaccidental trauma.
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PASSAGE TWO OF THE DAY: (From the American Association for the Advancement of Science News Release)"While acknowledging that child abuse is a serious problem that needs to be dealt with appropriately, Holick believes misdiagnosing child abuse can also have devastating long-term consequences for both the child and the parents. "If this infant were brought into the hospital with an upper respiratory tract infection at eight weeks of age, an x-ray of his chest would have revealed healing fractures of his arms and multiple healing fractures of his ribs. A skeletal survey would have revealed the healing fractures in both his legs. He would have been tested and found not to have OI, and therefore the diagnosis for the fractures would have been that they were caused by non-accidental trauma. The child would have been immediately removed from the care of his parents and the parents would have been accused of felony child abuse. It is hoped that this case report will now give reconsideration for diagnosing child abuse solely based on x-ray findings of a fracture or fractures with a negative genetic test for OI," he said."
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GIST: "Researchers have identified a new underlying cause of fragile bones in developing fetuses, this one apparently associated with maternal Ehlers-Danlos Syndrome (EDS), according to a news release propagated by the American Association for the Advancement of Science.
The paper behind the press release underscores the pitfalls of diagnosing abuse by default when a child with fractures in different stages of healing tests negative for known genetic conditions that predispose to fragile bones.
The original article ran in the journal Children: Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta, by Michael F. Holick, Arash Shirvani, and Nipith Charoenngam
The article is a case report from the Ehlers-Danlos Clinical Research Program at the Boston University Medical Campus, where researchers examined ultrasounds of the developing fetus at several points during gestation and identified what looked like fractures suffered in utero. X-rays after birth confirmed the findings. The boy tested negative for osteogenesis imperfecta (OI) and other known causes of fragile bones, including vitamin D deficiency, and the authors note:
If this mother had brought in her son for medical care later in his infancy without prior diagnosis of in utero fractures, these X-ray findings would almost certainly have resulted in the diagnosis of nonaccidental trauma.
Citing other abuse diagnoses based on fractures in children of EDS parents, the authors point to an "urgent need for further investigations to identify additional causative genetic variants for skeletal fragility, including yet to be identified genes associated with a well-recognized bone fragility disorder associated with a genetic defect of the collagen–elastin matrix: EDS.""
The entire post can be read at:
https://onsbs.com/2021/06/18/infant-bone-fragility-a-new-cause/
