New insights in congenital bowing of the femora.
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stüve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases.
Cormier-Daire
V
V
Department of Medical Genetics, Hôpital Necker, Paris, France. cormier@necker.fr
Geneviève
D
D
Munnich
A
A
Le Merrer
M
M
D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D011859:Radiography; D018121:Receptors, Cytokine / Q000235:genetics; D053606:Receptors, OSM-LIF; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D019812:Heparan Sulfate Proteoglycans; D006609:High Mobility Group Proteins; C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit; D018121:Receptors, Cytokine; D053606:Receptors, OSM-LIF; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors; C071927:perlecan