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.
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。
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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。
Eur J Pediatr. 1980 Aug;134(2):139-43. doi: 10.1007/BF01846033.
3
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.
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