ELLIS-VAN CREVELD SYNDROME

Öz

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Anahtar Kelimeler

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ELLIS-VAN CREVELD SYNDROME

Abstract

Ellis-van Creveld syndrome (EVCS) or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. The patient presented with short stature, polydactyly, triangular face and dental dismorphism was found appropriately as radiographic with ectodermal dysplasia. In addition to the presence of single atrium, mitral, tricuspid and pulmonary valve insufficiency and pulmonary hypertension wererevealed by echocardiography. Her history involved a sister who was dead in 3-month-ages

Keywords

• Ellis-van Creveld (EVC) syndrome, chondroectodermal dysplasia, single atrium, pulmonary hypertension

Kaynakça

1. Ellis RWB, Van Creveld SA. Syndrome characterized by ectodermal dysplasia, polydactyly, congenital morbus cordis: report of three cases. Arch Dis Child 1940;15:65-84 and
2. Scurlock D, Ostler D, Nguyen A, Wahed A. Ellis-van Creveld Syndrome and Dyserythropoiesis Arch Pathol Lab Med 2005;129:680-2
3. McKusick VA; Egeland JA; Eldridge R, Krusen DE. Dwarfism in the Amish. I. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp 1964;115:306-36
4. Oliveira da Silva E, Janovitz D, de Alberquerque syndrome: Report of 15 cases in an inbred kindred. J Med Genet 1980;17:349–56
5. Goldblatt J, Minutillo C, Pemberton PJ, Hurst J. Ellis-van Creveld syndrome in a Western Australian Aboriginal community: postaxial polydactyly as a heterozygous manifestation?. Med J Aust 1992;157:271-2
6. Varela M, Ramos C. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. Eur J Orthod 1996;18:313-8
7. Polymeropoulos, MH, Ide SE, Wright M, Goodship J, Weissenbach J et al.The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics 1996;35:1-5
8. Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D et al. Mutations in a new gene in Ellis–van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000;24: 283–6

9. Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H; Egeland JA; Ginns EI. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Molec Genet Metab 2002;77:291-5
10. Tompson SWJ; Ruiz-Perez VL, Blair HJ, et al. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet 2007;120: 663-70
11. Biggerstaff RH, Mazaheri M. Oral manifestations of the Ellis-van Creveld Syndrome. J Am Dent Assoc 1968;77:1090-5
12. Digoy PG, Greenberg M, Magit A. Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome. Int J Pediatr Otorhinolaryngol 2005;69:1433-5
13. Giknis FL:Single atrium and the Ellis-van Creveld syndrome. J Pediatr 1963;62:558-64
14. Sajeev CG, Roy TNS, Venugopal K. Common atrium in a child with Ellis-Van Creveld syndrome. Heart 2002;88:142–2
15. Alvarez-Borja A. Ellis-van Creveld syndrome: report of two cases. Pediatrics 1960;26:301-9
16. Rosemberg S, Cameiro P C, Zerbini M C. Chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. Am J Med Genet 1983;2:64-7
17. Zangwill KM, Boal DKB, Ladda RL. Dandy- Walker malformation in Ellis-van Creveld syndrome. Am J Med Genet 1988;31:123-9
18. Venkat-Raman N, Sebire NJ, Murphy KW, Carvalho JS, Hall CM. Increased first- trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis–Van Creveld syndrome). Ultrasound Obstet Gynecol. 2005;25:412–4
19. Guschmann M, Horn D, Gasiorek-Wiens A, Urban M, Kunze J, Vogel M. Ellis-van Creveld syndrome: examination at 15 weeks’ gestation. Prenat Diagn 1999;19(9):879-83
20. 21.Horigome H, Hamada H, Sohda S, Oyake Y, Kurosaki Y.Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium. Pediatr Radiol 1997;27(12): 942-4