Course : Genetic Challenges and Controversies in Suspected Child Abuse Cases: Distinguishing Fracture Facts from Fracture Friction

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.





The clinical geneticist can be called upon to play a role in the multidisciplinary evaluation of children with clinical findings concerning for child abuse. In considering child abuse from a clinical genetics perspective, presentations can be categorized into fractures, skin lesions, hemorrhage, growth disturbances, and concern for caregiver-fabricated illness (previously known as Munchausen syndrome by proxy).This session focuses on fractures and current diagnostic challenges and public misperceptions and controversies. The first diagnostic challenge is that in suspected child abuse cases, the clinician must decide whether and when to pursue testing for osteogenesis imperfecta. A second diagnostic challenge is that more rare disorders (beyond osteogenesis imperfecta) that predispose to fracture, often easily diagnosable by clinical history and radiographs, could be missed due to lack of training. An area of current public controversy is whether non-mobile infants with multiple unexplained fractures could be diagnosed with Ehlers-Danlos syndrome as a feasible explanation. For example, the media has featured sympathetic stories of parents who claim they are victims of false child abuse allegations (after charges have been dismissed due to medical experts who gave testimony for the defense). This session addresses these challenges by discussing current clinical, radiological, and molecular approaches for diagnosing osteogenesis imperfecta and other bone fragility disorders that predispose to fractures. Next, this session considers the evidence in the literature (or lack thereof) suggesting that Ehlers-Danlos syndrome predisposes to bone fragility in infants. Finally, this session considers practice changes in order to both diagnose and reduce the likelihood of abuse in children with disabilities, a particularly vulnerable population. The goal is to empower clinical geneticists to utilize a unified and up-to-date approach to help distinguish the rare causes from the real cases of child abuse, and those critical distinctions and correct diagnoses may be life-saving for some infants and children.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:

1. Consider Current Approaches to Clinical, Radiological, and Molecular Work-up for Osteogenesis Imperfecta in Suspected Child Abuse Cases
2. Recognize that Bone Fragility Disorders Beyond Osteogenesis Imperfecta Include Disorders with Decreased Bone Density, Increased Bone Density, and Rarely Normal Bone Density
3. Discuss whether Ehlers-Danlos Syndrome predisposes to bone fragility in infants and children
4. Consider Red Flags that May Indicate Abuse in Children with Disabilities

Purchase without Educational Credits