A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.
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.
Sutton
V Reid
VR
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030-3498, USA. vsutton@bcm.tmc.edu
Hyland
James C
JC
Phillips
William A
WA
Schlesinger
Alan E
AE
Brill
Paula W
PW
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D012600:Scoliosis / Q000151:congenital*; D035781:Siblings