Prenatal diagnosis of Ellis-van Creveld syndrome: case report and literature review
DOI:
https://doi.org/10.18597/rcog.213Keywords:
Ellis-van Creveld, ectodermal chondrodysplasia, cardiac malformation, polydactylyAbstract
Introduction: Ellis van Creveld (EVC) syndrome is a rare genetic disorder which is characterized by a person having short limbs, polydactylia and heart defects; it can be detected prenatally by ultrasound. A case is presented here so that its characteristics, possible differential diagnoses and prognosis can be discussed.
Materials and methods: this article presents a case of prenatal diagnosis of EVC by ultrasound which was confirmed shortly after birth. A bibliographic search was made of the Medline via PubMed database; 15 of the 579 articles which were found were reviewed due to their pertinence and topicality.
Conclusions: EVC syndrome is a condition which is susceptible to prenatal diagnosis. It should be suspected in cases of mesomelia, polydactyly and cardiac defects. Prognosis mainly depends on the type of cardiac malformation.
Author Biographies
Tamara Estrada T
Jorge Hernán Montoya V
Hernán Cortés-Yepes
References
Gagnon A, Wilson RD, Allen VM, Audibert F, Blight C, Brock JA, et al. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can 2009;31:875-81.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 2009;34:160-70.
Ellis RW, van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis. Report of three cases. Arch Dis Child 1940;15:65-84.
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;27:942-4.
Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab 2002;77:291-5.
Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, et al. Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. BMC Med Genet 2010;11:33.
Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, et al. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet 2007;120:663-70.
Elçioglu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. Am J Med Genet 2002;111:392-400.
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.
Yamada T, Nishimura G, Nishida K, Sawai H, Omatsu T, Kimura T, et al. Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. J Obstet Gynaecol 2001;37:151-5.
Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis 2007;2:27.
Slavkin HC. What the future holds for ectodermal dysplasias: future research and treatment directions. Am J Med Genet A 2009;149:2071-4.
Mahoney MJ, Hobbins JC. Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. N Engl J Med 1977;297:258-60.
Sharma OP, Saraf R, Gupta B. Ellis van Creveld’s syndrome (a case report). Indian J Radiol Imaging 2006;16:325-7.
Scurlock D, Ostler D, Nguyen A, Wahed A. Ellis-van Creveld syndrome and dyserythropoiesis. Arch Pathol Lab Med 2005;129:680-2.
Ruíz-Pérez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000;24:283-6.
Tompson SW, Ruíz-Pérez VL, Blair HJ, Barton S, Navarro V, Robson JL, et al. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet 2007;120:663-70.
How to Cite
Downloads
Downloads
Published
Issue
Section
License
Copyright (c) 2015 Revista Colombiana de Obstetricia y Ginecología
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Article metrics | |
---|---|
Abstract views | |
Galley vies | |
PDF Views | |
HTML views | |
Other views |