A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.
Publication/Presentation Date
3-1-2005
Abstract
Spondylometaphyseal dysplasia (SMD) is a term applied to a varied group of skeletal dysplasias that principally involve the spine and the metaphyses of long bones. SMD Sutcliffe or "Corner Fracture" type is characterized by short stature, developmental coxa vara, fragmented appearance of the metaphyses ("corner fractures"), abnormally shaped vertebrae, odontoid hypoplasia, and dominant inheritance. We report a family with a dominantly inherited SMD with "corner fractures" and severe, congenital scoliosis but neither coxa vara nor odontoid abnormalities. This could either represent phenotypic variability in SMD-"Corner Fracture" type, or be a new, dominantly inherited SMD. The presence of severe, congenital scoliosis and short stature is present in all members of this family, and not typically seen in SMD-"Corner Fracture" type, supporting our hypothesis that this might represent a new, dominantly inherited SMD.
Volume
133A
Issue
2
First Page
209
Last Page
212
ISSN
1552-4825
Published In/Presented At
Sutton, V. R., Hyland, J. C., Phillips, W. A., Schlesinger, A. E., & Brill, P. W. (2005). A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. American journal of medical genetics. Part A, 133A(2), 209–212. https://doi.org/10.1002/ajmg.a.30567
Disciplines
Medicine and Health Sciences
PubMedID
15666313
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article