Townes-Brocks Syndrome: Clinical-epidemiological aspects of a consecutive series of cases and frequency in Spain;Sindrome de Townes-Brocks en Espana: Aspectos epidemiologicos en una serie consecutiva de casos

Anales Espanoles de Pediatria

Volumn 50, Issue 1, 1999, Pages 57-60

  Martinez Frias M L ^a   Bermejo Sanchez E ^a   Arroyo Carrera, I ^b   Perez Fernandez J L ^c   Pardo Romero, M ^d   Buron Martinez E ^e   Hernandez Ramon F ^f  

^a UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^b HOSPITAL SAN PEDRO DE ALCÁNTARA   (Spain)

^c HOSPITAL DE BASURTO   (Spain)

^d HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

^e HOSPITAL CLÍNICO UNIVERSITARIO DE VALLADOLID   (Spain)

^f HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

Author keywords

Anal atresia; Frequencies; Malformations; Polydactyly; Preauricular tag; Townes Brocks syndrome

Indexed keywords

ANUS ATRESIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; EAR MALFORMATION; FEMALE; GENETIC VARIABILITY; HEARING DISORDER; HUMAN; INCIDENCE; LOW BIRTH WEIGHT; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; POLYDACTYLY; DIFFERENTIAL DIAGNOSIS; SPAIN; SYNDROME;

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; SPAIN; SYNDROME;

EID: 0032619668     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 1972;81:231-326.
2. Aylsworth AS. The Townes-Brocks syndrome: a member of the anushand-ear family of syndromes. Am J Hum Genet 1985;37(Suppl): A43.
3. Cameron TH, Lachiewicz AM, Aylsworth AS. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 1991;41:1-4.
4. De Vries-Van der Weerd, MACS, Willems PJ, Mandema HM, Ten Kate LP. A new family with the Townes-Brocks syndrome. Clin Genet 1998; 34:195-200.
5. Friedman PA, Rao KW, Aylsworth AS. Six patients with the Townes-Brocks syndrome including five familial cases and association with a pericentric inversion of chromosome 16. Am J Hum Genet 1987;41 (Suppl):A60.
6. Johnson JP, Poskancer LS, Sherman S. Three generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculo-auriculo-vertebral spectrum. Am J Med Genet 1996;61:134-139.
7. Ferraz FG, Nunes L, Ferraz ME, Sousa JP, Santos M, Carvalho C, Maroteaux P. Townes-Brocks syndrome. Report of a case and review of the literature. Ann Genet 1989;32:120-123.
8. Kurnit DM, Steele MW, Pinsky L, Dibbins A. Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 1978;93:270-273.
9. Walpole IR, Hockey A. Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. J Pediatr 1982;100:250-252.
10. Monteiro de Pina-Neto J. Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet 1984;18:147-152.
11. O'Callaghan M, Young ID. The Townes-Brocks syndrome. J Med Genet 1990;27:457-461.
12. Arroyo Carrera I, López Cuesta MJ, García García MJ, Lozano Rodríguez JA, Carretero Díaz V. Síndrome de Townes-Brocks. An Esp Pediatr 1996;44:364-366.
13. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nature Genet 1998;18:81-83.
14. Martínez-Frías ML. Primary midline developmental field. I. Clinical and epidemiological characteristics. Am J Med Genet 1995;56:374-381.
15. Martínez-Frías ML, Frías JL, Rodríguez-Pinilla E, Urioste M, Bermejo E, Cereijo A, Gayá F. Value of clinical analysis in epidemiological research: The Spanish registry experience. Am J Med Genet 1991;41:192-195.
16. Martínez-Frías ML, Félix Rodríguez V, Hernández Ramón F, Martín Bermejo M, López Soler JA, Ayala Garcés A, Bermejo Sánchez E, Rodriguez Pinilla E. Síndromes con defectos del tubo neural: Análisis epidemiológico en España. An Esp Pediatr 1996;45:276-280.
17. Martínez-Frías ML, Prieto Valiente L, Bermejo Sánchez E, Gayá Moreno F. Estudio del peso al nacimiento sobre una población de niños sin defectos congénitos. I. Curvas de percentiles del peso por edad gestacional. An Esp Pediatr 1990;33:12-15.
18. Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T. Townes-Brocks syndrome associated with mental retardation. Am J Med Genet 1996; 61:191-192.
19. Green AJ, Sandford RN, Davison BCC. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. J Med Genet 1996;33:594-596.
20. Martínez-Frías ML, Frías JL, Opitz JM. Errors of morphogenesis and developmental field theory. Am J Med Genet 1998;76:291-296.
21. Serville F, Lacombe D, Saura R, Billeaud C, Sergent MP. Townes-Brocks syndrome in an infant with translocation t(5;16). Genet Couns 1993;4:109-112.