“Serpentine-like syndrome”–A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies

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• 作者：Ana Beleza-Meireles^a ; ^b ; ^{ana.beleza@gstt.nhs.uk} ; Patricia Steenhaut^c ; Catheline Hocq^d ; Philippe Clapuyt^e ; Pierre Bernard^c ; Christian Debauche^d ; Yves Sznajer^a
• 刊名：European Journal of Medical Genetics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：60
• 期：2
• 页码：100-104
• 全文大小：1075 K
• 卷排序：60

文摘

“Serpentine-like syndrome” is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs.We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days.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.