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首页> 外文期刊>Open Journal of Pediatrics >Achondrogenesis Type II in a Live Term Newborn Infant: A Case Report
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Achondrogenesis Type II in a Live Term Newborn Infant: A Case Report

机译：活期新生儿中II型Achondrogenesis：1例病例报告

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>Background:>> style="font-family:""> style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen and poor ossification of the bones.>> style="font-family:""> style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">The children with achondrogenesis are usually born premature, or die in the neonatal period mostly from respiratory failure. We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth.>> style="line-height:102%;font-family:""> style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">Methods:>> style="font-family:""> style="font-family:Verdana;"> We report a case of achondrogenesis type II in a live male newborn. style="font-family:Verdana;"> Results:>> style="font-family:""> style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">We report the case of a term male infant delivered to a 24-year-old woman with a chondrogenesis type II confirmed radiologically but died at age 5 days style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">. style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">Conclusion:>> style="font-family:""> style="font-family:Verdana;"> style="font-family:Verdana;"> style="font-family:Verdana;">Whenever a skeletal dysplasia in a fetal dwarfism is suspected, a proper work-up plan should be done to evaluate family history. A clinical, radiographic and histopathologic examination, should be done and confirmed by genetic study. Following evidence-based diagnosis, patients could be offered termination of pregnancy after counseling.
机译：>背景：> > style =“ font-family：”“> style =” font-family：Verdana; “> style =” font-family：Verdana;“> style =” font-family：Verdana;“> Achondrogenesis Type II是一种致命的骨软骨发育不良形式，特征是躯干短，头部不成比例大，前额突出，小白点。 ，极端的小mel症，阿纳萨卡（anasarca），大腹部和骨骼骨化不良。 > > style =“ font-family：”“> < / span> style =“ font-family：Verdana;”> style =“ font-family：Verdana;”> style =“ font-family：Verdana;”>患有软骨失调的儿童通常出生于早产儿，或在新生儿期死于呼吸衰竭。我们报告了一个活产期II型软骨发育不全的新生儿，该婴儿出生后不久就死亡。 > > style =“ line-height： 102％; font-family：“”> style =“ font-family：Verdana;”> style =“ font-family：Verdana; “> style =” font-family：Verdana;“>方法： > > style =” font-family ：“”> style =“ font-family：Verdana;”>我们报告了一例在活着的男性新生儿中发生软骨发育不全的II型病例。 style =“ font-family：Verdana;” >结果： > > style =“ font-family：”“> style =“ font-family：Verdana;”> style =“ font-family：Verdana;”> style =“ font-family：Verdana;”>我们报告一例足月男婴分娩，该例男婴经放射学证实已确诊为II型软骨形成，但在5天大时死亡。 style =“ font-family ：Verdana;“> style =” font-family：Verdana;“> style =“ font-family：Verdana;”>。 style =“ font-family：Verdana;”> style =“ font-family：Verdana;”> style =“ font-family：”> Verdana;“>结论： > > style =” font-family：“”> style =“ font-family：Verdana;”> style =“ font-family：Verdana;”> style =“ font-family：Verdana;”>怀疑胎儿侏儒症的骨骼发育异常，应制定适当的检查计划以评估家族病史，应进行临床，影像学和组织病理学检查，并通过基因研究予以证实，在循证诊断后可以为患者提供治疗咨询后终止妊娠。

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