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

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Published/Copyright: October 10, 2019
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 32 Issue 10

Abstract

Background

Infants who present with multiple unexplained fractures (MUF) are often diagnosed as victims of child abuse when parents deny wrongdoing and cannot provide a plausible alternative explanation. Herein we describe evidence of specific and commonly overlooked radiographic abnormalities and risk factors that suggest a medical explanation in such cases.

Methods

We evaluated such infants in which we reviewed the radiographs for signs of poor bone mineralization. We reviewed medical, pregnancy and family histories.

Results

Seventy-five of 78 cases showed poor bone mineralization with findings of healing rickets indicating susceptibility to fragility fractures that could result from a wide variety of causes other than child abuse. We found risk factors that could explain the poor bone mineralization: maternal and infant vitamin D deficiency (VDD), decreased fetal bone loading, prematurity and others. Most infants had more than one risk factor indicating that this bone disorder is a multifactorial disorder that we term metabolic bone disease of infancy (MBDI). Maternal and infant VDD were common. When tested, 1,25-dihydroxyvitamin D levels were often elevated, indicating metabolic bone disease.

Conclusions

Child abuse is sometimes incorrectly diagnosed in infants with MUF. Appreciation of the radiographic signs of MBDI (healing rickets), risk factors for MBDI and appropriate laboratory testing will improve diagnostic accuracy in these cases.

Keywords: bone loading; child abuse; fractures in infancy; metabolic bone disease of infancy; Utah Paradigm; vitamin D deficiency
Corresponding author: Marvin Miller, MD, Dayton Children’s Hospital, Department of Medical Genetics, 1 Children’s Plaza, Dayton, OH 45404, USA; and Department of Pediatrics, Ob/Gyn and Biomedical Engineering, Wright State University Boonshoft School of Medicine, Dayton, OH, USA, Phone: +(937) 641-5374, Fax: +(937) 641-5325

Acknowledgments

The authors are grateful to Shelley Miller and Eric Gershon for their critical review of the manuscript.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2019-02-18
Accepted: 2019-07-05
Published Online: 2019-10-10
Published in Print: 2019-10-25

©2019 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Ghrelin and leptin levels in children with anxiety disorders
  4. The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis
  5. Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty
  6. Changes in body mass index in children on gonadotropin-releasing hormone agonist therapy with precocious puberty, early puberty or short stature
  7. Psychological effects of gonadotropin-releasing hormone agonist treatment in girls with central precocious puberty
  8. The effect of GnRH analogue treatment on bone mineral density in young adolescents with gender dysphoria: findings from a large national cohort
  9. Zinc deficiency in Japanese children with idiopathic short stature
  10. Psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in a randomized open-label comparator trial in idiopathic short stature
  11. Findings of metabolic bone disease in infants with unexplained fractures in contested child abuse investigations: a case series of 75 infants
  12. Effect of home-based strength training program on IGF-I, IGFBP-1 and IGFBP-3 in obese Latino boys participating in a 16-week randomized controlled trial
  13. Adiposity and attained height in adolescents: a longitudinal analysis from the LabMed Physical Activity Study
  14. Providing quality care for children and adolescents with diabetes from lower-income families in Mexico
  15. Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
  16. Validation of a risk screening tool for pediatric type 1 diabetes patients: a predictor of increased acute health care utilization
  17. Triglyceride/glucose index is a reliable alternative marker for insulin resistance in South American overweight and obese children and adolescents
  18. Micro-RNA 196a2 expression and miR-196a2 (rs11614913) polymorphism in T1DM: a pilot study
  19. Case Reports
  20. Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10
  21. Short stature: making a crystal clear diagnosis
  22. Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma
https://doi.org/10.1515/jpem-2019-0093
Keywords for this article
bone loading; child abuse; fractures in infancy; metabolic bone disease of infancy; Utah Paradigm; vitamin D deficiency

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. Ghrelin and leptin levels in children with anxiety disorders
  4. The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis
  5. Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty
  6. Changes in body mass index in children on gonadotropin-releasing hormone agonist therapy with precocious puberty, early puberty or short stature
  7. Psychological effects of gonadotropin-releasing hormone agonist treatment in girls with central precocious puberty
  8. The effect of GnRH analogue treatment on bone mineral density in young adolescents with gender dysphoria: findings from a large national cohort
  9. Zinc deficiency in Japanese children with idiopathic short stature
  10. Psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in a randomized open-label comparator trial in idiopathic short stature
  11. Findings of metabolic bone disease in infants with unexplained fractures in contested child abuse investigations: a case series of 75 infants
  12. Effect of home-based strength training program on IGF-I, IGFBP-1 and IGFBP-3 in obese Latino boys participating in a 16-week randomized controlled trial
  13. Adiposity and attained height in adolescents: a longitudinal analysis from the LabMed Physical Activity Study
  14. Providing quality care for children and adolescents with diabetes from lower-income families in Mexico
  15. Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
  16. Validation of a risk screening tool for pediatric type 1 diabetes patients: a predictor of increased acute health care utilization
  17. Triglyceride/glucose index is a reliable alternative marker for insulin resistance in South American overweight and obese children and adolescents
  18. Micro-RNA 196a2 expression and miR-196a2 (rs11614913) polymorphism in T1DM: a pilot study
  19. Case Reports
  20. Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10
  21. Short stature: making a crystal clear diagnosis
  22. Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma
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