Michael Segal MD PhD
"Bones breaking, bending or joints dislocating
Many diseases result in bones being susceptible to breaking, leading to allegations of child abuse. One should check whether superficial indications of trauma are commensurate with the fractures. Serial measurement of serum alkaline phosphatase activity is also helpful. Other bone disease result in bones being undermineralized and likely to bow or bend, leading to accusations of neglect. Examples particularly likely to lead to errors are:
- Alagille syndrome
- Osteogenesis imperfecta
- X-linked hypophosphatemia: Joan Reed, President of the XLH Network, relates that the undermineralization and bowing of bones in children with XLH often leads to suspicion of nutritional neglect and delays in diagnosis. Even after diagnosis of some related disorders such as Autosomal Dominant Hypophosphatemic Rickets, the use of the word rickets causes many non-medical people to assume the problem is nutritional.
- Bone disease of prematurity
- Ehlers-Danlos syndrome and other connective tissue disorders
- Rickets due to vitamin D deficiency
- Scurvy (vitamin C deficiency): particularly suspicious because bruising is also frequent
- Copper deficiency and Menkes disease: particularly suspicious because of frequent subdural hematomas in Menkes disease and seizures.
- Inherited systemic hyalinosis: Shieh et al. relate that "Periosteal reaction or fractures on skeletal radiographs in systemic hyalinosis have been mistaken for nonaccidental trauma. The hyperpigmented skin lesions may mistakenly be considered post-traumatic".
Some medications can make bones more fragile, most commonly steroids.
Cedars Sinai Hospital has taken a particular interest in such orthopedic cases. "