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Dominant preaxial brachydactyly with hallux varus and thumb abduction.

作者信息

Christian J C, Cho K S, Franken E A, Thompson B H

出版信息

Am J Hum Genet. 1972 Nov;24(6 Pt 1):694-701.

PMID:5082920
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762298/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea50/1762298/68d8c8fc2b63/ajhg00457-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea50/1762298/67df94156e4c/ajhg00457-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea50/1762298/68d8c8fc2b63/ajhg00457-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea50/1762298/67df94156e4c/ajhg00457-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea50/1762298/68d8c8fc2b63/ajhg00457-0088-a.jpg

相似文献

1
Dominant preaxial brachydactyly with hallux varus and thumb abduction.伴有拇内翻和拇指外展的显性轴前短指畸形
Am J Hum Genet. 1972 Nov;24(6 Pt 1):694-701.
2
[A dominant syndrome associated with polysyndactyly, spatule thumb, facial abnormalities, and mental retardation. (A particular form of Noack's acrocephalosyndactylia)].
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Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity.伴有拇指外展的轴前短指畸形和拇内翻：一种独特的病症。
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A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.一种新的显性基因所致智力发育迟缓综合征。与身材矮小、手指细长、特殊面容以及可能的脑积水相关。
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5
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引用本文的文献

1
Isolated symmetrical brachymetacarpia of the thumb--case report.孤立性对称性拇指掌骨短小症——病例报告
Hand (N Y). 2009 Dec;4(4):424-6. doi: 10.1007/s11552-009-9185-8. Epub 2009 Mar 25.
2
Christian brachydactyly in a father and two daughters.一位父亲和两个女儿患先天性短指（趾）畸形。
Skeletal Radiol. 1995 Nov;24(8):623-5. doi: 10.1007/BF00204866.
3
Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.短指（趾）症与多指（趾）症伴皮嵴分离和嵴发育不全。

本文引用的文献

1
FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.
Bull Johns Hopkins Hosp. 1963 Jul;113:20-30.
2
[Diastrophic nanism].[畸形性侏儒症]
Presse Med (1893). 1960 Nov 23;68:1977-80.
3
Congenital hallux varus.先天性拇内翻。
Am J Surg. 1958 Feb;95(2):274-8. doi: 10.1016/0002-9610(58)90515-4.
J Med Genet. 1979 Oct;16(5):402-5. doi: 10.1136/jmg.16.5.402.
4
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.
Am J Dis Child. 1967 Feb;113(2):214-21. doi: 10.1001/archpedi.1967.02090170078006.
5
Radiographic measurements of the skeletal structure of the normal hand.正常手部骨骼结构的影像学测量。
Br J Radiol. 1966 Jan;39(457):52-62. doi: 10.1259/0007-1285-39-457-52.
6
Variation in palmar creases.掌纹的变异。
Am J Dis Child. 1970 Nov;120(5):424-31. doi: 10.1001/archpedi.1970.02100100088008.
7
The thumb in the congenital malformation syndromes.
Radiology. 1971 Jul;100(1):115-29. doi: 10.1148/100.1.115.