The Lesson of Temporary Brittle Bone Disease: All Bones are not Created Equal
Temporary brittle bone disease (TBBD) is a recently described phenotype of multiple, unexplained fractures in the first year of life and predominantly in the first 6 months of life. There is usually no other injury such as bruising, subdural hematomas, retinal hemorrhages, or other internal organ injury. The susceptibility to fracture is transient, and there are no other radiographic or biochemical abnormalities noted in the standard evaluation that might suggest an underlying cause. The child abuse and pediatric radiology communities have, for the most part, been unwilling to accept this as a real condition, for they believe it is a ruse for child abuse. This review describes the experience of the author in evaluating infants with multiple unexplained fractures and the hypothesis that has emerged for explaining TBBD. The hypothesis is a prenatal application of the mechanostat/bone loading theory of bone formation and states that TBBD is caused by fetal immobilization which leads to fetal bone unloading and transient, relative osteopenia. Such susceptible infants can fracture with routine handling and present with a pattern of fractures that is similar to that which has been thought to be highly specific for child abuse. The review presents: (a) the evidence that indicates that normal fetal movement is important for normal fetal bone strength, (b) a critique of the radiologic approach in the diagnosis of child abuse in infants with multiple unexplained fractures, (c) observations that would indicate that child abuse is unlikely in infants with TBBD, and (d) new approaches to the infant with multiple unexplained fractures that would assist in accurate diagnosis.
Miller, M. E.
(2003). The Lesson of Temporary Brittle Bone Disease: All Bones are not Created Equal. Bone, 33 (4), 466-474.