Genetic differentials of child abuse: Is your case rare or real?

The clinical geneticist can be called upon to play a role in the medical evaluation of children with clinical findings concerning for child abuse. This Introduction describes a case of suspected child abuse in an 8-month-old baby referred to clinical genetics to exclude osteogenesis imperfecta. The experience from this case raised medical and ethical considerations and prompted consideration of the role of the clinical geneticist in distinguishing rare mimics of child abuse from real cases. From this single case, and a discussion regarding similar cases, arose the idea of this issue in Seminars in Medical Genetics, Genetic Differentials of Child Abuse: Is Your Case Rare or Real? In thinking about child abuse from a clinical genetics perspective, we categorize clinical presentations into fractures, skin lesions, hemorrhage, growth disturbances, and concern for caregiver-fabricated illness (previously known as Munchausen syndrome by proxy). In this Introduction, we also discuss recent questions regarding Ehlers-Danlos syndrome and infantile fractures and concerns about caregiver-fabricated illness in the context of mitochondrial or other rare diseases. The goal is that this issue on child abuse and genetics will serve as a resource 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.