Ellis-Van Creveld's Syndrome with Common Atrium

Ellis-van Creveld syndrome (EVCS) 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. A 8 years old female child presented with history of breathlessness on exertion has disproportionate short stature, polydactyly, hydratic ectodermal dysplasia suggestive of EVCS. Echocardiographic examination revealed common atrium with mild pulmonary hypertension.

Keywords:

Ellis-Van Creveld syndrome polydactyly, common atrium,

PDF

___

Dasilva EO, Janovitz D, De Albuquerque SC. Ellis– van Creveld syndrome: report of 15 cases in an inbred kindred. J Med Genet, 1980, 17:349–356.
Popli MB, Popli V, Ellis Van Creveld Syndrome. Ind Jour Radiol 2002; 12:549-550.
Sanjeet CG, Roy TNS & Venugopal K. Common atrium in a child with Ellis Van Creveld Syndrome Heart 2002; 88: 142.
Arya L, Mendiratta V, Sharma RC, Solanki RS. Ellisvan Creveld Syndrome: a report of two cases. Pediatr Dermatol 2001;18:485-9.
Varela M, Ramos C. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. European Journal of Orthodontics 1996; 18: 313-318.
Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis 2007;2:27.
Aldegheri R. Distraction osteogenesis for lengthening of the tibia in patients who have limb-length discrepancy or short stature. J Bone Joint Surg Am 1999;81:624-34.
Ghosh S, Setty S, Sivakumar A, Pai KM. Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:670-6.
Giknis FL:Single atrium and the Ellis-van Creveld syndrome. J Pediatr 1963;62:558-64
Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 2011 Oct;32(7):977-82.
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;2:64-71.
Zangwill KM, Boal DKB, Ladda RL. Dandy-Walker malformation in Ellis-van Creveld syndrome. Am J Med Genet 1988;31:123-9
O'Connor MJ, Rider NL, Thomas Collins R, Hanna BD, Holmes Morton D, Strauss KA. Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. Cardiol Young. 2011; 21:145-52

Başlangıç: 2009
Yayıncı: Bilal YILDIZ

Arşiv