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VATER — tibia aplasia association: report on two patients

机译:VATER — 胫骨发育不全协会结肠;关于2例患者的报告

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摘要

We report two patients with oesophageal atresia, tracheo-oesophageal fistula and unilateral tibial aplasia. The karyotype in both patients was normal and both cases were sporadic. The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt (2000)Clin Dysmorphol9:205–208 reported a similar patient with a VATER-tibia aplasia association.
机译:我们报告了 2 例食管闭锁、气管-食管瘘和单侧胫骨发育不全的患者。两例患者的核型均正常,均为散发性。儿童的先天性缺陷可以被视为VA(C)TER(L)关联的罕见变体。最近,Basel 和 Goldblatt [(2000)Clin Dysmorphol9:205–208] 报道了一例类似的 VATER-胫骨发育不全患者。

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