PMID: 24341142Dec 18, 2013Paper

Bamforth syndrome: is porencephaly a new finding?

Genetic Counseling
G SandalA R Ormeci

Abstract

Bamforth syndrome is a rare inherited condition whose main features are congenital hypothyroidism due to thyroid dysplasia, cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis. This syndrome is caused by mutations in the gene encoding thyroid transcription factor 2 (TTF-2). Here we report on a newborn with facial dysmorphism, cleft palate, spiky hair, congenital hypothyroidism and that are observed with Bamforth syndrome. This is the first case with Bamforth syndrome in which porencephaly has been observed.

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