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胎儿无肢畸形:一例病例报告。

Fetal amelia: a case report.

作者信息

Al Riyami Nihal, Ahmed Asfhaq, Tanzeem Shahila, Abdul-Latif Mohammed

出版信息

Oman Med J. 2012 Jan;27(1):54-5. doi: 10.5001/omj.2012.11.

DOI:10.5001/omj.2012.11
PMID:22359727
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3282125/
Abstract

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.

摘要

先天性肢体缺陷是罕见的胎儿异常,出生患病率为每1000例中有0.55例。无肢畸形是一种极其罕见的出生缺陷,其特征是一条或多条肢体完全缺失。我们报告一例胎儿无肢畸形病例、超声检查结果、临床表现及胎儿结局。

相似文献

1
Fetal amelia: a case report.胎儿无肢畸形:一例病例报告。
Oman Med J. 2012 Jan;27(1):54-5. doi: 10.5001/omj.2012.11.
2
Isolated Bilateral Upper Limb Amelia - A Rare Case Report.孤立性双侧上肢缺如——一例罕见病例报告
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Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.阿米莉亚:国际出生缺陷监测和研究信息交换所大型数据集的多中心描述性流行病学研究,以及文献综述。
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):288-304. doi: 10.1002/ajmg.c.30319. Epub 2011 Oct 14.
4
Fetal Amelia With Hypoplastic Tibia and Terminal Fibular Hemimelia: A Case Report With Review of the Literature.胎儿无肢畸形合并胫骨发育不全及腓骨末端半侧发育不全:1例病例报告并文献复习
Cureus. 2022 Dec 22;14(12):e32849. doi: 10.7759/cureus.32849. eCollection 2022 Dec.
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A combined case of amelia and phocomelia in a neonate, at JFK Maternity Center, Liberia.利比里亚肯尼迪夫人妇产中心一名新生儿患先天性无肢畸形与短肢畸形合并症的病例。
Ghana Med J. 2021 Mar;55(1):77-79. doi: 10.4314/gmj.v55i1.11.
6
Amelia: incidence and associated defects in a large population.无肢畸形:大群体中的发病率及相关缺陷
Teratology. 1990 Jan;41(1):23-31. doi: 10.1002/tera.1420410104.
7
Absence of limbs and gross body wall defects: an epidemiological study of related rare malformation conditions.肢体缺失与严重体壁缺陷:相关罕见畸形状况的流行病学研究
Teratology. 1992 Nov;46(5):455-64. doi: 10.1002/tera.1420460510.
8
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).与肢体缺损相关的先天性异常:基于匈牙利先天性畸形登记处(1975 - 1984年)病例的人群研究。
Am J Med Genet. 1994 Jan 1;49(1):52-66. doi: 10.1002/ajmg.1320490111.
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Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
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10
Prenatal ultrasound diagnosis of amelia.无肢畸形的产前超声诊断
Prenat Diagn. 1995 Jul;15(7):655-9. doi: 10.1002/pd.1970150711.

引用本文的文献

1
Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.一名新生儿单侧无肢畸形伴肢体畸形和多发先天性畸形:来自巴勒斯坦的病例报告。
Ann Med Surg (Lond). 2025 Feb 11;87(2):1052-1056. doi: 10.1097/MS9.0000000000002913. eCollection 2025 Feb.
2
Fetal Tetra-Amelia Birth: A Case Report.胎儿四肢完全缺如出生:一例报告
Case Rep Obstet Gynecol. 2024 Dec 31;2024:7801322. doi: 10.1155/crog/7801322. eCollection 2024.
3
Correlation Between Morphological Patterns and Multidetector Computed Tomography (MDCT) Enhancement Patterns in Gallbladder Carcinoma With Locoregional Infiltration.胆囊癌局部区域浸润的形态学模式与多排螺旋计算机断层扫描(MDCT)强化模式的相关性
Cureus. 2024 Aug 20;16(8):e67266. doi: 10.7759/cureus.67266. eCollection 2024 Aug.

本文引用的文献

1
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
Clin Genet. 1996 Dec;50(6):502-4. doi: 10.1111/j.1399-0004.1996.tb02722.x.
2
A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother.一名患有上肢缺肢、“尾端退化”及Dandy-Walker畸形的胎儿,其母亲为胰岛素依赖型糖尿病患者。
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Genetics and limb deficiencies.
Clin Orthop Relat Res. 1980 May(148):9-17.
4
Infants with congenital limb reduction registered in the Swedish Register of Congenital Malformations.
Teratology. 1984 Feb;29(1):73-85. doi: 10.1002/tera.1420290109.
5
Incidence at birth of different types of limb reduction abnormalities in Hungary 1975-1977.1975 - 1977年匈牙利不同类型肢体短小畸形的出生发病率。
Hum Genet. 1983;65(1):27-33. doi: 10.1007/BF00285024.
6
Tetra-amelia with multiple malformations in six male fetuses of one kindred.一个家族中六名男性胎儿患无四肢畸形并伴有多种畸形。
Eur J Pediatr. 1985 Nov;144(4):412-4. doi: 10.1007/BF00441792.
7
Major limb malformations following intrauterine exposure to ethanol: two additional cases and literature review.
Teratology. 1986 Jun;33(3):273-80. doi: 10.1002/tera.1420330304.
8
Limb-body wall complex: II. Limb and spine defects.肢体-体壁复合体:II. 肢体与脊柱缺陷
Am J Med Genet. 1987 Nov;28(3):549-65. doi: 10.1002/ajmg.1320280303.
9
Amelia: incidence and associated defects in a large population.无肢畸形:大群体中的发病率及相关缺陷
Teratology. 1990 Jan;41(1):23-31. doi: 10.1002/tera.1420410104.
10
Ectro-amelia syndrome associated with an interstitial deletion of 7q.与7号染色体长臂间质性缺失相关的无肢畸形综合征。
Am J Med Genet. 1990 Jan;35(1):95-9. doi: 10.1002/ajmg.1320350118.