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Chondroectodermal Dysplasia (Ellis-van Creveld)
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            Selected References

            1. D'Ambrosio V et al: Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. Prenat Diagn. 35(1):97-9, 2015
            2. Tahririan D et al: Chondroectodermal dysplasia: a rare syndrome. J Dent (Tehran). 11(3):361-4, 2014
            3. Huber C et al: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93(5):926-31, 2013
            4. McInerney-Leo AM et al: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 93(3):515-23, 2013
            5. Muensterer OJ et al: Ellis-van Creveld syndrome: its history. Pediatr Radiol. 43(8):1030-6, 2013
            6. Sasalawad SS et al: Ellis-van Creveld syndrome. BMJ Case Rep. 2013, 2013
            7. Hills CB et al: Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 32(7):977-82, 2011
            8. Schramm T et al: Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 34(2):160-70, 2009
            9. Baujat G et al: Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2:27, 2007
            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

                      Selected References

                      1. D'Ambrosio V et al: Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. Prenat Diagn. 35(1):97-9, 2015
                      2. Tahririan D et al: Chondroectodermal dysplasia: a rare syndrome. J Dent (Tehran). 11(3):361-4, 2014
                      3. Huber C et al: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93(5):926-31, 2013
                      4. McInerney-Leo AM et al: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 93(3):515-23, 2013
                      5. Muensterer OJ et al: Ellis-van Creveld syndrome: its history. Pediatr Radiol. 43(8):1030-6, 2013
                      6. Sasalawad SS et al: Ellis-van Creveld syndrome. BMJ Case Rep. 2013, 2013
                      7. Hills CB et al: Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 32(7):977-82, 2011
                      8. Schramm T et al: Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 34(2):160-70, 2009
                      9. Baujat G et al: Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2:27, 2007