CONTACT US: Contact info
|
Citation |
Parmar CD, Sinha AK, Hayhurst C, May PL, O'Brien DF. J. Neurosurg. 2007; 106(1 Suppl): 57-60. |
|
Affiliation |
Department of Neurosurgery, Royal Liverpool Children's Hospital NHS Trust, Alder Hey United Kingdom. |
|
Copyright |
(Copyright © 2007, American Association of Neurological Surgeons) |
|
DOI |
|
PMID |
17233315 |
|
Abstract |
Osteogenesis imperfecta (OI) represents a rare heterogeneous group of inherited disorders characterized by low bone mass, increased bone fragility, and other connective tissue manifestations. This condition can contribute to dramatic complications after a seemingly insignificant injury. A large epidural hematoma that developed in a child with OI after a trivial fall highlights the importance of close monitoring in these patients. After an injury that occurred several months prior to the head trauma the authors describe, this child had been placed in foster care because it was believed that his skeletal injuries were caused by nonaccidental injury. Subsequent genetic analysis confirmed that the child was heterozygous for the missense mutation c767G>T,pG256V at exon 16 of COLIA2, consistent with OI, and the foster care order was overturned. The authors review the literature concerning OI, its relationship to head injury, and the importance of genetic analysis in its diagnosis. Language: en |