Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589096 | European Journal of Medical Genetics | 2017 | 17 Pages |
Abstract
To our knowledge, the present patient represents the 8th report of a case of “Serpentine-like syndrome”. Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental “toolkit”/homeobox gene or related pathways.
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Authors
Ana Beleza-Meireles, Patricia Steenhaut, Catheline Hocq, Philippe Clapuyt, Pierre Bernard, Christian Debauche, Yves Sznajer,