amelia

amelia
  • 文章类型: Case Reports
    背景:体壁异常包括广泛的畸形。肢体壁复合体(LBWC)代表了该组中最严重的表现,几乎所有病例都有危及生命的畸形,包括颅面,体壁缺陷,和肢体异常.关于其病因和折叠和胃泌素缺陷尚未达成共识。此外,受损的血管生成已被认为是一个致病过程。
    方法:我们介绍一个男性死产的案例,15岁第一次怀孕的产品,健康的母亲由于胎膜早破,他在妊娠31周时分娩。他表现出多种畸形,包括广泛的体壁缺损,多器官疝和右下肢小脑。
    结论:LBWC代表一种严重且总是致命的病理。没有描述的危险因素,然而,这个案例出现在一个十几岁的母亲身上,其他体壁异常的风险因素。它的诊断使我们能够区分需要产前或产后专门治疗的其他病理。
    BACKGROUND: Body wall anomalies comprise a wide range of malformations. Limb-Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process.
    METHODS: We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb.
    CONCLUSIONS: LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.
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  • 文章类型: Case Reports
    先天性肢体畸形,出生频率为0.55/1000,是极为罕见的产前缺陷,可以表现为部分或完全缺乏肢体或肢体的特定部分。Amelia是一种零星的异常,定义为完全没有肢体的骨骼元素,而缺盐是由肢体骨骼元素的不完全发育定义的。我们介绍了一例新生儿的面部畸形,表现为没有外耳和鞍形鼻子。可见右下肢芽的缺失。左下肢发育不全,仅注意到大腿区域,腿部远端发育不良,脚缺位。生殖器和肛门缺失。据我们所知,这种情况是特殊的,因为出生时存在先天性肢体异常,并伴有生殖器发育不全。
    Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb\'s skeletal elements, whereas hypomelia is defined by the incomplete development of a limb\'s skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose. The absence of the right lower limb bud was seen. The left lower limb was underdeveloped, noted only up to the thigh region with the hypoplastic distal part of the leg and absent foot. Genitals and the anus were absent. To the best of our knowledge, this case is exceptional in that congenital limb abnormalities are present at birth along with accompanying genital underdevelopment.
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  • 文章类型: Journal Article
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