Temporary brittle bone disease: Association with decreased fetal movement and osteopenia

Infants who present with multiple unexplained fractures pose a difficult diagnostic dilemma of child abuse versus intrinsic bone disease. Temporary brittle bone disease is a recently described disease characterized by a transient bone weakness in the first year of life which presents with multiple, unexplained fractures that can be confused with child abuse. The purpose of this study was to determine if there are common, historical features in infants with unexplained fractures that might suggest a basis for the fractures, and to determine if bone density measurements might indicate that such infants have low bone density. Medical records were reviewed in 33 infants who were referred for consultation for multiple unexplained fractures in which the parents and other caregivers denied wrongdoing. In 9 of the infants, radiographic absorptiometry and/or computed tomography bone density studies were performed. In 26 of these infants the diagnosis of temporary brittle bone disease was made. A normal collagen test was found in 17 of the 26 infants studied; 9 infants did not have a collagen test because the diagnosis of osteogenesis imperfecta was considered highly unlikely. In 25 of them there was a history of decreased fetal movement and/or intrauterine confinement. Bone density, as judged by plain X-ray films, was normal in all 26 cases, but when formally measured by radiographic absorptiometry or computed tomography, the bone density measurements were low in 8 of the 9 infants studied. These findings implicate decreased fetal movement and intrauterine confinement as contributing factors to temporary brittle bone disease and suggest that normal, unconstrained fetal movement during pregnancy is important for normal fetal bone formation. These findings support the model that bone formation and strength are dependent on the mechanical load placed on the bone. The results also demonstrate the usefulness of bone density measurements in evaluating the infant with multiple unexplained fractures to help distinguish nonaccidental injury from intrinsic bone disease.