EL SÍNDROME DE ECTRODACTILIA, DISPLASIA ECTODÉRMICA Y LABIO/PALADAR HENDIDO. PRESENTACIÓN DE UN CASO Y REVISIÓN DE LA LITERATURA
El síndrome de ectrodactilia, displasia ectodérmica y labio/paladar hendido es un trastorno poco frecuente que se transmite generalmente con un patrón de herencia autosómico dominante.
Institución del autor
Universidad ICESI, Cali, Colombia
Palabras clave
ectrodactilia, displasia ectodérmica, labio hendido, paladar hendido
Bibliografía del caso clínico
Bibliografía
1. Rüdiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 120(2):160-3, 1970.
2. Baroni A, Adone B, Piccolo V, Vincenzo P, Di Maio R, Rosa DM, et al. A sporadic case of oligosymptomatic ectrodactyly-ectodermal dysplasia-clefting syndrome. Indian J Dermatol Venereol Leprol 78(4):521, 2012.
3. Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol 5(2):115-27, 1996.
4. Meza Escobar LE, Isaza C, Pachajoa H. Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity. Arch Argent Pediatr 110(5):e95-8, 2012.
5. Barrow LL, Van Bokhoven H, Daack-Hirsch S, Andersen T, Van Beersum SE, Gorlin R, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 39(8):559-66, 2002.
6. Ray AK, Marazita ML, Pathak R, Beever CL, Cooper ME, Goldstein T, et al. TP63 mutation and clefting modifier genes in an EEC syndrome family. Clin Genet 66(3):217-22, 2004.
7. Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, et al. A newborn with overlapping features of AEC and EEC syndromes. Am J Med Genet A 155A(12):3100-3, 2011.
8. Bertola DR, Kim CA, Sugayama SM, Albano LM, Utagawa CY, Gonzalez CH. AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. Pediatr Dermatol 17(3):218-21, 2000.
9. Vernersson Lindahl E, Garcia EL, Mills AA. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. Am J Med Genet A 161A(8):1961-71, 203.
10. Ergin H, Semerci CN, Karakus YT, Scheffer H, Ergin S, Koltuksuz U, et al. The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. Turk J Pediatr 52(5):529-33, 2010.
11. Marwaha M, Nanda KD. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). Contemp Clin Dent 3(2):205-8, 2012.
12. Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 13(Spec. No 1):R73-81, 2004.
13. Pascual JC, Betlloch I, Vergara G, Blanes M, Bañuls J, Belinchón I. Síndrome EEC. Actas Dermo-Sifiliográficas 94(04):255-7, 2003.
14. Käsmann B, Ruprecht KW. Ocular manifestations in a father and son with EEC syndrome. Graefes Arch Clin Exp Ophthalmol 235(8):512-6, 1997.
15. Rodini ES, Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet 37(1):42-53, 1990.
16. Bigatà X, Bielsa I, Artigas M, Azón A, Ribera M, Ferrándiz C. The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases. Pediatr Dermatol 20(2):113-8, 2003.
17. Rollnick BR, Hoo JJ. Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet 29(1):131-6, 1988.
18. Rios LT, Araujo Júnior E, Caetano AC, Nardozza LM, Moron AF, Martins MG. Prenatal diagnosis of EEC syndrome with "lobster claw" anomaly by 3D ultrasound. J Clin Imaging Sci 2:40, 2012.
19. Tekin M, Ohle C, Johnson DE, Christmas JT, Bodurtha J. Counseling dilemmas in EEC syndrome. Genet Couns 11(1):19-24, 2000.
20. Tse K, Temple IK, Baraitser M. Dilemmas in counselling: the EEC syndrome. J Med Genet 27(12):752-5, 1990.
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