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Townes-Brocks syndrome

  • Medical Genetics
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Abstract

A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk.

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König, R., Schick, U. & Fuchs, S. Townes-Brocks syndrome. Eur J Pediatr 150, 100–103 (1990). https://doi.org/10.1007/BF02072048

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  • DOI: https://doi.org/10.1007/BF02072048

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