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劳林-桑德罗综合征(镜像手足与鼻缺陷):一例新病例的描述。

Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.

作者信息

Martínez-Frías M L, Alcaraz M, Espejo P, Gómez M A, García de León R, González Moro L

机构信息

ECEMC Coordinating Group, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

出版信息

J Med Genet. 1994 May;31(5):410-2. doi: 10.1136/jmg.31.5.410.

DOI:10.1136/jmg.31.5.410
PMID:8064822
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049876/
Abstract

A child with complete syndactyly of cup shaped hands and mirror polysyndactyly of the feet, together with a nasal defect, was identified out of a total of 1,031,439 livebirths. She had a pattern of multiple congenital anomalies which was similar to that first described by Laurin et al in 1964 and by Sandrow et al in 1970. Two more cases with a similar pattern of congenital anomalies have recently been published so this is the fifth reported case with this constellation.

摘要

在1031439例活产婴儿中,发现一名患有杯状手完全并指畸形和足部镜像多指畸形以及鼻缺损的儿童。她具有多种先天性异常模式,与1964年Laurin等人和1970年Sandrow等人首次描述的模式相似。最近又发表了另外两例具有类似先天性异常模式的病例,因此这是第五例报告的具有这种综合征的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/1a8e2f11caef/jmedgene00284-0065-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/6982fd07c1f9/jmedgene00284-0064-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/f782e9d540e3/jmedgene00284-0064-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/c76816d93b0d/jmedgene00284-0065-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/141feb41afe8/jmedgene00284-0065-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/e9010123432e/jmedgene00284-0065-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/1a8e2f11caef/jmedgene00284-0065-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/6982fd07c1f9/jmedgene00284-0064-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/f782e9d540e3/jmedgene00284-0064-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/c76816d93b0d/jmedgene00284-0065-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/141feb41afe8/jmedgene00284-0065-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/e9010123432e/jmedgene00284-0065-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a94e/1049876/1a8e2f11caef/jmedgene00284-0065-d.jpg

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1
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J Med Genet. 1994 May;31(5):410-2. doi: 10.1136/jmg.31.5.410.
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引用本文的文献

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Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg.与胫骨缺如相关的轴前镜像多指畸形:足部和腿部骨骼异常模式的研究
J Child Orthop. 2007 Mar;1(1):49-54. doi: 10.1007/s11832-006-0001-5. Epub 2007 Feb 3.
3
Mirror hands and feet.镜像手和脚。

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BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT.
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Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition.镜像手和脚伴明显鼻部缺陷,一种常染色体显性遗传病。
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Sandrow syndrome of mirror hands and feet and facial abnormalities.镜像手足及面部异常的桑德罗综合征。
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Mirror hands and feet: a further case of Laurin-Sandrow syndrome.镜像手和脚:Laurin-Sandrow综合征的另一病例。
J Med Genet. 1996 May;33(5):426-8. doi: 10.1136/jmg.33.5.426.
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