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.
Key words: Temporary brittle bone disease — Child abuse — CT bone density — Mechanostat — Mechanical loading — Fetal movement
— Osteopenia.
Received: 26 February 1998 / Accepted: 4 August 1998