Conceptos Categóricos

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.
Autor
Harry Pachajoa
Columnista Experto de SIIC
Institución del autor
Universidad ICESI, Cali, Colombia

Palabras clave
ectrodactilia, displasia ectodérmica, labio hendido, paladar hendido

Clasificación en siicsalud
Artículos originales > Expertos de iberoamérica >
página  http://www.siicsalud.com/dato/casiic.php/144350

Especialidades
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Primera edición
5 de diciembre, 2014
Segunda edición, ampliada y corregida
7 de junio, 2019

Bibliografía del caso clínico
Bibliografía
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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.
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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.
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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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