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.
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Publication Dates
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Publication in this collection
26 Oct 2006 -
Date of issue
1996
