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Adducted thumb syndromes.

作者信息

Fitch N, Levy E P

出版信息

Clin Genet. 1975 Sep;8(3):190-8. doi: 10.1111/j.1399-0004.1975.tb01493.x.

DOI:10.1111/j.1399-0004.1975.tb01493.x
PMID:1175322
Abstract

The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dysmyelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re-assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex-linked hydrocephalus.

摘要

相似文献

1
Adducted thumb syndromes.
Clin Genet. 1975 Sep;8(3):190-8. doi: 10.1111/j.1399-0004.1975.tb01493.x.
2
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate.
Clin Genet. 1971;2(2):95-103.
3
Adducted thumbs: a clinical clue to genetic diagnosis.拇指内收:基因诊断的临床线索。
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4
Heterogeneity in adducted thumbs sequence.
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Prenatal diagnosis of fetal adducted thumbs.胎儿拇指内收的产前诊断。
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Triphalangeal thumbs and congenital erythroid hypoplasia: report of a case with unusual features.三节指骨拇指畸形与先天性红细胞生成减少症:一例具有罕见特征的病例报告。
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8
Adducted thumb syndrome. Report of a new case and a diagnostic approach.内收拇指综合征。1例新病例报告及诊断方法。
Eur J Pediatr. 1983 Dec;141(2):122-6. doi: 10.1007/BF00496805.
9
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.Xq28区域X连锁扣拇指与智力发育迟缓(MASA综合征)的精细定位
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10
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.COG7基因中的一种常见突变,具有一致的表型,包括小头畸形、拇指内收、生长发育迟缓、室间隔缺损和体温过高发作。
Eur J Hum Genet. 2007 Jun;15(6):638-45. doi: 10.1038/sj.ejhg.5201813. Epub 2007 Mar 14.

引用本文的文献

1
Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment.先天性拇指内收畸形患者的特征:对40例患者治疗结果的前瞻性研究
J Child Orthop. 2007 Nov;1(5):313-22. doi: 10.1007/s11832-007-0057-x. Epub 2007 Oct 17.
2
X linked hydrocephalus and MASA syndrome.X连锁脑积水与MASA综合征。
J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59.
3
Adducted thumb syndrome. Report of a new case and a diagnostic approach.内收拇指综合征。1例新病例报告及诊断方法。
Eur J Pediatr. 1983 Dec;141(2):122-6. doi: 10.1007/BF00496805.