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三角头畸形与奥匹兹C综合征。

Trigonocephaly and the Opitz C syndrome.

作者信息

Sargent C, Burn J, Baraitser M, Pembrey M E

出版信息

J Med Genet. 1985 Feb;22(1):39-45. doi: 10.1136/jmg.22.1.39.

DOI:10.1136/jmg.22.1.39
PMID:3981579
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049376/
Abstract

We present 12 cases of trigonocephaly of which six were associated with other malformations. On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome.

摘要

我们报告了12例三角头畸形病例，其中6例伴有其他畸形。基于这一经验，我们探讨了假定的常染色体隐性三角头畸形C综合征的诊断标准。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/be1b611c9512/jmedgene00093-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/3c8b4340b355/jmedgene00093-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/ae1232a881ee/jmedgene00093-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/749a0426e502/jmedgene00093-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/17e19acdeba2/jmedgene00093-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/29480dcce59b/jmedgene00093-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/be1b611c9512/jmedgene00093-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/3c8b4340b355/jmedgene00093-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/ae1232a881ee/jmedgene00093-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/749a0426e502/jmedgene00093-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/17e19acdeba2/jmedgene00093-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/29480dcce59b/jmedgene00093-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bba1/1049376/be1b611c9512/jmedgene00093-0049-b.jpg

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1
Trigonocephaly and the Opitz C syndrome.三角头畸形与奥匹兹C综合征。
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2
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本文引用的文献

1
Trigonocephaly. Identity and surgical treatment.三角头畸形。诊断与手术治疗。
J Neurosurg. 1962 Sep;19:723-30. doi: 10.3171/jns.1962.19.9.0723.
2
Orbital hypotelorism, arhinencephaly, and trigonocephaly.眶间距过窄、无脑回畸形和三角头畸形。
Radiology. 1960 Feb;74:206-17. doi: 10.1148/74.2.206.
3
Further delineation of the C (trigonocephaly) syndrome.C（三角头畸形）综合征的进一步描述。
伴其他先天性异常的额缝早闭婴儿的临床特征及手术决策
Plast Reconstr Surg Glob Open. 2013 Nov 7;1(7):e62. doi: 10.1097/GOX.0b013e3182a87e9b. eCollection 2013 Oct.
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Metopic synostosis.额缝早闭
Childs Nerv Syst. 2012 Sep;28(9):1359-67. doi: 10.1007/s00381-012-1803-z. Epub 2012 Aug 8.
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The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.3q29 微缺失综合征：三例新的不相关患者的报告及对 3q29 区域的“RNA 结合”的计算机分析。
Am J Med Genet A. 2011 Jul;155A(7):1654-60. doi: 10.1002/ajmg.a.34080. Epub 2011 May 27.
6
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.免疫球蛋白超家族成员CD96中的突变会导致一种C（奥匹兹三角头畸形）综合征。
Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27.
7
Surgical correction of metopic synostosis.额缝早闭的手术矫正
Childs Nerv Syst. 2005 May;21(5):392-8. doi: 10.1007/s00381-004-1108-y. Epub 2005 Feb 16.
8
Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3.一名3岁女孩患有扩张型心肌病，其3号染色体长臂存在末端缺失，核型为46,XX,del(3)(q27-qter) 。
Eur J Pediatr. 2003 Jun;162(6):403-5. doi: 10.1007/s00431-003-1160-8. Epub 2003 Mar 27.
9
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).由于遗传性隐匿性亚端粒易位t(3;16)(q29;p13.3)导致的家族性智力迟钝综合征ATR-16
Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703.
10
Interstitial deletion of band 3q25.
J Med Genet. 1997 May;34(5):430-2. doi: 10.1136/jmg.34.5.430.
Am J Med Genet. 1981;9(2):147-63. doi: 10.1002/ajmg.1320090209.
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The C syndrome.C综合征。
Birth Defects Orig Artic Ser. 1975;11(2):58-62.
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The Opitz trigonocephaly syndrome. A case report.奥匹兹三角头畸形综合征。病例报告。
Am J Dis Child. 1975 Nov;129(11):1348-9. doi: 10.1001/archpedi.1975.02120480062016.