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A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis
Author(s) -
Sutton V. Reid,
Hyland James C.,
Phillips William A.,
Schlesinger Alan E.,
Brill Paula W.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30567
Subject(s) - congenital scoliosis , short stature , coxa vara , medicine , hypoplasia , scoliosis , dysplasia , osteochondrodysplasia , anatomy , surgery , pediatrics , femur
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. © 2005 Wiley‐Liss, Inc.