Limb defects

肢体缺损
  • 文章类型: Case Reports
    肢体-体壁复合体(LBWC)又称体柄综合征是一种罕见的先天性疾病,其特征是肢体严重畸形,胸部,和腹部,其特点是胸椎裂的存在,腹壁裂,肢体缺陷,和外脑。这种情况极为罕见,在大型流行病学研究中,每14,000例妊娠中有1例和每31,000例妊娠中有1例。这些畸形胎儿中的大多数最终自然流产。我们介绍了这种罕见的病例,发生在妊娠35周的早产儿中。我们的报告强调了以前文献中报道的大多数临床表现,但是生殖器缺失,泌尿生殖道畸形以及肛门直肠畸形的重要病理发现使这种情况更加罕见。婴儿核型分析是正常男性,在这种情况下没有特定的潜在遗传相关性,具有致命的预后。
    The limb-body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks\' gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary as well as anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has a fatal prognosis.
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  • 文章类型: Journal Article
    BACKGROUND: Air pollution influences the development of limb defects in animals. There is little epidemiologic evidence on the effect of prenatal air pollution exposure on the risk of limb defects.
    OBJECTIVE: To assess the relations between exposure to ambient air pollutants and the risk of limb defects.
    METHODS: We conducted a matched-pairs case-control study in Taiwan from 2001 through 2007. The case group consisted of 1687 limb defects and the control group was density-sampling matched one to ten based on the month and year of conception from 1510,064 live singleton newborns in 2001-2007. Adjusted conditional logistic regression models were used to estimate odds ratios per 10 ppb change for O3, NO2, 1 ppb change for SO2, 10 µg/m(3) change for PM10, and 100 ppb change for CO during the first trimester and first three gestational months.
    RESULTS: Of the specific limb defects, reduction deformities of limbs (adjusted OR=1.024, 95% CI: 1.000, 1.048) was associated with a 1 ppb increase in SO2 during weeks of 9-12 of gestation as well as the first trimester. Reduction deformities of limbs was also associated with a 10 ppb increase in O3 during weeks of 1-4 of gestation (adjusted OR=1.391, 95% CI: 1.064, 1.818) among preterm births.
    CONCLUSIONS: The present study provides evidence that exposure to outdoor air SO2 during the first trimester of pregnancy may increase the risk of limb defects. Exposure to O3 was associated with reduction deformities of limbs among preterm births. Similar levels of SO2 and O3 are encountered globally by large numbers of pregnant women.
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  • 文章类型: Case Reports
    BACKGROUND: Adams-Oliver Syndrome is characterized by the combination of aplasia cutis congenita and limb anomalies. It was initially described in 1945 by Adams and Oliver.
    METHODS: We report a case of a 10-year-old girl with Adams-Oliver Syndrome with aplasia cutis congenita and limb defects only with no internal organ anomalies.
    CONCLUSIONS: Adams-Oliver Syndrome is a rare multisystem disorder of unknown etiology. It may be presented by isolated aplasia cutis congenita and limb anomalies.
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  • 文章类型: Case Reports
    先天性肢体缺陷是罕见的胎儿畸形,出生患病率为每千人0.55。Amelia是一种极其罕见的出生缺陷,其特征是完全没有一个或多个肢体。我们报告了一例胎儿阿米莉亚,超声检查结果,表现和胎儿结局。
    Congenital limb defects are rare fetal anomalies with a birth prevalence of 0.55 per 1,000. Amelia is an extremely rare birth defect marked by the complete absence of one or more limbs. We report a case of fetal amelia, ultrasound findings, manifestations and the fetal outcome.
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