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In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Caroline AlbyLucile BoutaudMaryse BonnièreSophie Collardeau-FrachonLaurent GuibaudEstelle LopezAnge-Line BruelBernard AralPascale SonigoPhilippe RothClaude Vibert-GuigueVanina CastaigneBruno CarbonneNicole JoyéLaurence FaivreMarie-Pierre CordierAntoinette Bernabe GelotMaurizio ClementiIsabella MammiMichel VekemansFéréchté RazaviMarie GonzalesChristel Thauvin-RobinetTania Attie-Bitach
Published in: Birth defects research (2017)
To our knowledge, these are the first case reports of antenatal diagnosis of OFD1 syndrome in the absence of familial history, revealed following detection of agenesis of the corpus callosum. They highlight the impact of fetal examination following termination of pregnancy for brain malformations. They also highlight the contribution of ciliary genes to corpus callosum development.
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