Townes-Brocks syndrome

Journal of Medical Genetics

Volumn 36, Issue 2, 1999, Pages 89-93

  Powell, Cynthia M ^a   Michaelis, Ron C ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

Author keywords

Chromosome 16q12.1; SALL1; Townes Brocks syndrome

Indexed keywords

ANUS ATRESIA; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 16Q; CYTOGENETICS; EXTERNAL EAR MALFORMATION; GENE MAPPING; GENE MUTATION; HEARING LOSS; HUMAN; INTELLIGENCE; KIDNEY MALFORMATION; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; POLYDACTYLY; PRIORITY JOURNAL; REVIEW; THUMB MALFORMATION;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CHROMOSOMES, HUMAN, PAIR 16; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; EAR, EXTERNAL; EYE ABNORMALITIES; FEMALE; HEARING LOSS, SENSORINEURAL; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PHENOTYPE; POLYDACTYLY; SCOLIOSIS; SYNDROME; TRANSCRIPTION FACTORS; UROGENITAL ABNORMALITIES; VARIATION (GENETICS);

EID: 0032990470     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (44)

1. Friedman PA, Rao KW, Aylsworth AS. Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. Am J Hum Genet Suppl 1987;41:A60.
2. Serville F, Lacombe D, Saura R, Billeaud C, Sergent MP. Townes-Brocks syndrome in an infant with translocation t(5;16). Genet Couns 1993;4:109-12.
3. Powell CM, Reitnauer PJ, Kaiser-Rogers KA, Rao KW. A paracentric inversion of 16q in a patient with anus, hand, and ear anomalies: further evidence for a Townes-Brocks syndrome gene at 16q12.1. Am J Hum Genet 1995;57: A100.
4. Michaelis RC, Kaiser-Rogers KA, Reitnauer PJ, Rao KW, Powell CM. Refinement of the critical region for Townes-Brocks syndrome. Am J Hum Genet 1996;59:A228.
5. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998;18:81-3.
6. Cameron TH, Lachiewicz AM, Aylsworth AS. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 1991;41:1-4.
7. Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T. Townes-Brocks syndrome associated with mental retardation. Am J Med Genet 1996;61:191-2.
8. Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 1972;81:321-6.
9. Reid IS, Turner G. Familial anal abnormality. J Pediatr 1976;88:992-4.
10. 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: 270-3.
11. Barakat AY, Butler MG, Salter JE, Fogo A. Townes-Brocks syndrome: report of three additional patients with previously undescribed renal and cardiac abnormalities. Dysmorphol Clin Genet 1988;2:104-8.
12. de Vries-Van der Weerd MAC, Willems PJ, Mandema HM, ten Kate LP. A new family with the Townes-Brocks syndrome. Clin Genet 1988,34:195-200.
13. Rossmiller DR, Pasic TR. Hearing loss in Townes-Brocks syndrome. Otolaryngol Head Neck Surg 1994;111:175-80.
14. Walpole IR, Hockey A. Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorinural deafness. J Pediatr 1982;100:250-2.
15. Hersch JH, Jaworski M, Solinger RE, Weisskopf B, Donat J. Townes syndrome: a distinct multiple malformation syndrome resembling VACTERL association. Clin Pediatr 1986;25:100-2.
16. Ferraz FG, Nunes L, Ferraz ME, et al. Townes-Brocks syndrome. Report of a case and review of the literature. Ann Genet 1989;32:120-3.
17. Konig R, Schick U, Fuchs S. Townes-Brocks syndrome. Eur J Pediatr 1990;150:100-3.
18. Kotzot D, Lorenz P, Bieber A, Grobe H. Townes-Brocks syndrome. Monatsschr Kinderheilkd 1992;140:343-5.
19. Parent P, Bensaid M, Le Guern H, et al. Clinical heterogeneity of Townes-Brocks syndrome. Arch Pediatr 1995;2:551-4. .
20. Arroyo Carrera I, Lopez Cuesta MJ, Garcia Garcia MJ, Lozano Rodriguez JA, Carretero Diaz V. Sindrome de Townes-Brocks. An Esp Pediatr 1996;44:364-6.
21. Newman WG, Brunet MD, Donnai D. Townes-Brocks syndrome presenting as end stage renal failure. Clin Dysmorphol 1997;6:57-60.
22. Aylsworth AS. Anus-hand-ear syndrome. In: Buyse ML, ed. Birth defects encyclopaedia. Dover: Blackwell Scientific Publications, 1990:155.
23. Monteiro de Pina-Neto J. Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet 1984;18:147-52.
24. Burke LW, Gross ME. Intrafamilial variability in Townes-Brocks syndrome. Am J Hum Genet 1997;61:A93.
25. O'Callaghan M, Young ID. The Townes-Brocks syndrome. J Med Genet 1990;27:457-61.
26. Say B, Gerald PS. A new polydactyly/imperforate anus/vertebral anomalies syndrome. Lancet 1968;ii:688.
27. Powell CM, Chandra RS, Saal HM. PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies and radial defects. Am J Med Genet 1993;47:807-11.
28. Evans JA, Stranc LC, Kaplan P, Hunter AGW. VACTERL with hydrocephalus: further delineation of the syndrome (s). Am J Med Genet 1989;34:177-82.
29. Toriello HV, Pearson G, Sommer A. Verification of the existence of a severe form of Fanconi pancytopenia. Proc Greenwood Genet Center 1992;11:142.
30. Porteous ME, Cross I, Burn J, VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? Am J Med Genet 1992;43:1032-4.
31. Wang H, Hunter AGW, Clifford B, McLaughlin M, Thompson D. VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am J Med Genet 1993;47:114-17.
32. Glanz A, Fraser FC, Spectrum of anomalies in Fanconi anaemia. J Med Genet 1982;19:412-16.
33. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 1993;91: 1116-20.
34. Jones KL. Smith's recognizable patterns of human malformation. Philadelphia: W B Saunders, 1997:430.
35. Johnson JP, Poskanzer LS, Sherman S. Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Am J Med Genet 1996;61:134-9.
36. Moeschler J, Clarren SK. Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet 1982;12:371-5.
37. Gabrielli O, Bonifazi V, Offidani AM, Cellini A, Coppa GV, Giorgi PL. Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? Minerva Pediatr 1993;45:459-62.
38. Cormier-Daire V, Iserin L, Theophile D, et al. Upper limb malformations in DiGeorge syndrome. Am J Med Genet 1995;56:39-41.
39. Prasad C, Quackenbush EJ, Whiteman D, Korf B. Limb anomalies in DiGeorge and CHARGE syndromes. Am J Med Genet 1997;68:179-81.
40. Yano S, Watanabe Y, Yoshino M, Aida K, Kato H. Townes-Brocks and Pendred syndrome in the same patient. Am J Med Genet 1998;77:330-1.
41. Aylsworth AS. The Townes-Brocks syndrome: a member of the anus-hand-ear family of syndromes. Am J Hum Genet 1985;37:A43.
42. Silver W, Steier M, Schwartz O, Zeichner MB. The Holt-Oram syndrome with previously undescribed associated anomalies. Am J Dis Child 1972;124:911-14.
43. Kaiser-Rogers KA, Powell CM, Callanan NP, Ledbetter DH, Teplin S, Rao KW. The usefulness and limitations of using FISH to characterize two partially cryptic complex chromosome rearrangements. Am J Hum Genet 1997;61: A129.
44. Kohlhase J, Schuh R, Dowe G, et al. Isolation, characterization, and organ-specific expression of two novel human zinc-finger genes related to the Drosophila gene spalt. Genomics 1996;38:291-8.