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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Camptomelic dysplasia
Definitions
Campomelia = bowed limbs
Rare, semilethal osteochondrodystrophy
Characterized by bowed extremities with absence of fractures, cutaneous dimpling, hypoplastic scapulae, sex reversal in male patients
IMAGING
Ultrasonographic Findings
Postnatal Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Jo A et al: The versatile functions of Sox9 in development, stem cells, and human diseases. Genes Dis. 1(2):149-161, 2014
Akiyama H et al: Unraveling the transcriptional regulatory machinery in chondrogenesis. J Bone Miner Metab. 29(4):390-5, 2011
Lee YH et al: Sox9 function in craniofacial development and disease. Genesis. 49(4):200-8, 2011
Oh CD et al: Identification of SOX9 interaction sites in the genome of chondrocytes. PLoS One. 5(4):e10113, 2010
Gordon CT et al: Long-range regulation at the SOX9 locus in development and disease. J Med Genet. 46(10):649-56, 2009
Wada Y et al: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. Am J Med Genet A. 149A(12):2882-5, 2009
Massardier J et al: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Fetal Diagn Ther. 24(4):452-7, 2008
Smyk M et al: Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genet A. 143A(8):866-70, 2007
Zhou G et al: Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 103(50):19004-9, 2006
Velagaleti GV et al: Position effects due to chromosome breakpoints that map ~900 Kb upstream and ~1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet. 76(4):652-62, 2005
Sock E et al: Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet. 12(12):1439-47, 2003
Harley VR: The molecular action of testis-determining factors SRY and SOX9. Novartis Found Symp. 244:57-66; discussion 66-7, 79-85, 253-7, 2002
Moog U et al: Acampomelic campomelic syndrome. Am J Med Genet. 104(3):239-45, 2001
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Camptomelic dysplasia
Definitions
Campomelia = bowed limbs
Rare, semilethal osteochondrodystrophy
Characterized by bowed extremities with absence of fractures, cutaneous dimpling, hypoplastic scapulae, sex reversal in male patients
IMAGING
Ultrasonographic Findings
Postnatal Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Jo A et al: The versatile functions of Sox9 in development, stem cells, and human diseases. Genes Dis. 1(2):149-161, 2014
Akiyama H et al: Unraveling the transcriptional regulatory machinery in chondrogenesis. J Bone Miner Metab. 29(4):390-5, 2011
Lee YH et al: Sox9 function in craniofacial development and disease. Genesis. 49(4):200-8, 2011
Oh CD et al: Identification of SOX9 interaction sites in the genome of chondrocytes. PLoS One. 5(4):e10113, 2010
Gordon CT et al: Long-range regulation at the SOX9 locus in development and disease. J Med Genet. 46(10):649-56, 2009
Wada Y et al: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. Am J Med Genet A. 149A(12):2882-5, 2009
Massardier J et al: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Fetal Diagn Ther. 24(4):452-7, 2008
Smyk M et al: Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genet A. 143A(8):866-70, 2007
Zhou G et al: Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 103(50):19004-9, 2006
Velagaleti GV et al: Position effects due to chromosome breakpoints that map ~900 Kb upstream and ~1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet. 76(4):652-62, 2005
Sock E et al: Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet. 12(12):1439-47, 2003
Harley VR: The molecular action of testis-determining factors SRY and SOX9. Novartis Found Symp. 244:57-66; discussion 66-7, 79-85, 253-7, 2002
Moog U et al: Acampomelic campomelic syndrome. Am J Med Genet. 104(3):239-45, 2001
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