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首页> 外文期刊>Pediatric surgery international >A neonate with anorectal malformation with rare limb defects report of a case.
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A neonate with anorectal malformation with rare limb defects report of a case.

机译：一例肛门直肠畸形，肢体少见的新生儿病例报道。

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A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also had imperforate anus and ventricular septal defect. These limb defects were-meromelia of the right upper limb (due to transverse deficiency of right humerus and absence of all the bony elements distally), and a short right lower limb due to co-existence of proximal femoral hypoplasia and fibular hemimelia. We could not trace the co-existence of these rare skeletal defects in any case with VACTERL association in the existing English literature, as was observed by us. The simultaneous occurrence of the defects involving distant anatomic sites supports the hypothesis of 'axial mesodermal dysplasia' in our patient, rather than 'caudal regression syndrome', as is popularly held in patients with anorectal malformation (ARM). Further, it points to occurrence of an early embryonic insult, probably taking place at blastogenic stage, when the developing embryo can be considered a polytopic development field. However, in absence of antenatal history suggestive of exposure to a known teratogen and a chromosomal analysis, it appears that the spectrum of anomalies in this neonate might have resulted secondary to early amniotic leak and temporary oligohydramnios.
机译：发现一名2岁大的男婴，其出生于非近亲婚姻且怀孕状况良好，其椎体，肛门，心脏，气管食管，radial骨和四肢（VACTERL）关联异常。引人注目的特征是婴儿右上，下肢同时出现两个罕见的肢体缺损，这些肛门也有无孔的肛门和室间隔缺损。这些肢体缺损是右上肢的肢膜萎缩（由于右肱骨横向缺乏和远端没有所有骨性元素），以及由于股骨近端发育不全和腓肠血尿并存而导致的右下肢短。我们观察到，在任何情况下，我们都无法在VACTERL关联中找到这些罕见骨骼缺损的共存情况。涉及远处解剖部位的缺陷的同时发生支持了我们患者中“中胚层中轴发育不良”的假说，而不是肛门直肠畸形（ARM）患者中普遍存在的“尾椎退化综合征”。此外，它指出可能发生在成胚阶段的早期胚胎侮辱，此时发育中的胚胎可以被认为是多位发育场。但是，由于没有产前史暗示要接触已知的致畸剂和进行染色体分析，因此该新生儿的异常谱似乎可能是继发于早期羊水泄漏和暂时性羊水过少的结果。

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