Abstract
We report a male with imperforate anus, pedunculated triphalangeal thumbs, hemifacial microsomia, microtia, preauricular tags and cardiac anomalies. This is the first individual with Townes-Brocks syndrome to have hydrocephalus.
Townes-Brocks; hemifacial; microsomia-VACTERL
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Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
Maria da Graça Martino Roth; Gilberto de Lima Garcias; Fátima Lassalete Soares Ferreira
Serviço de Aconselhamento Genético, Departamento de Zoologia e Genética, Instituto de Biologia, Universidade Federal de Pelotas (IB/ UFPEL), Campus Universitário, Caixa Postal 354, 96001-970 Pelotas, RS, Brasil. Fone: (0532) 75-7340. Send correspondence to M.G.M.R.
ABSTRACT
We report a male with imperforate anus, pedunculated triphalangeal thumbs, hemifacial microsomia, microtia, preauricular tags and cardiac anomalies. This is the first individual with Townes-Brocks syndrome to have hydrocephalus.
Keywords: Townes-Brocks; hemifacial; microsomia-VACTERL.
- Cohen Jr., M.M., Rollnick, B.R. and Kaye, C.I. (1989). Oculoauriculovertebral spectrum: An updated critique. Cleft Palate Craniofac. J. 26: 276-286.
- De Vries-Van Der Weerd, M.A.C.S., Willems, P.J., Mandema, H.M. and Kate, L.P.T. (1988). A new family with the Townes-Brocks syndrome. Clin. Genet. 34: 195-200.
- Duncan, P.A. and Shapiro, L.R. (1992). Embryologic pathogenetic role of cardiovascular malformations in the interrelationship of the hemifacial microsomia, VATER association and sirenomelia phenotypes. Teratology 41: 550-551.
- Duncan, P.A. and Shapiro, L.R. (1993). Interrelationships of the Hemifacial Microsomia-VATER, VATER, and sirenomelia phenotypes. Am. J. Med. Genet. 47: 75-84.
- Ferraz, F.G., Nunes, L., Ferraz, M.E., Sousa, J.P., Santos, M., Carvalho, C. and Maroteaux, P. (1989). Townes-Brocks syndrome, report of a case and review of the literature. Ann. Genet. 32: 120-123.
- Hersh, J.H., Jaworski, M., Solinger, R.E., Weisskopf, B. and Donat, J. (1986). Townes syndrome. Clin. Pediatr. 25: 100-102.
- 'Kaye, C.I., Martin, A.O., Rollnick, B.R., Nagatoshi, K., Israel, J., Hermanoff, M., Tropea, B., Richtsmeier, J.T. and Morton, N.E. (1992). Oculoauriculovertebral anomaly: Segregation analysis. Am. J. Med. Genet. 43: 913-917.
- Khoury, M.J., Cordero, J.F., Greenberg, F., James, L.M. and Erickson, J.D. (1983). A population study of the VACTERL association: Evidence for its etiologic heterogeneity. Pediatrics 71: 815-820.
- Kurnit, D.M., Steele, M.W., Pinsky, L. and Dibbins, A. (1978). Autosomal dominant transmission of a syndrome of anal, ear, renal and congenital malformations. J. Pediatr. 93: 270-273.
- McKusick, V.A. (1983). Inheritance in man: catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. The Johns Hopkins Univ. Press, Baltimore, PP. 1371p.
- Monteiro de Pina-Neto, J. (1984). Phenotypic Variability in Townes-Brocks syndrome. Am. J. Med. Genet. 18: 147-152.
- Reid, I.S. and Turner, G. (1976). Familial anal abnormality. J. Pediatr. 88: 992-994.
- Russell, L.J., Weaver, D.D. and Bull, M.J. (1981). The axial mesodermal dysplasia spectrum. Pediatrics 67: 176-182.
- Say, B. and Gerald, P.S. (1968). A new polydactyly/ imperforate anus/vertebral anomalies syndrome? Lancet ii, 688.
- Townes, P.L. and Brocks, E.R. (1972). Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J. Pediatr. 81: 321-326.
- Walpole, I.R. and Hockey, A. (1982). Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. J. Pediatr. 100: 250-252.
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Publication in this collection
26 Oct 2006 -
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1996