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Brazilian Journal of Genetics

Print version ISSN 0100-8455On-line version ISSN 1678-4502

Braz. J. Genet. vol.19 no.4 Ribeirão Preto  1996

http://dx.doi.org/10.1590/S0100-84551996000400018 

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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.


 

 

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