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科恩综合征的临床特征：更多病例报告

The clinical features of the Cohen syndrome: further case reports.

作者信息

North C, Patton M A, Baraitser M, Winter R M

出版信息

J Med Genet. 1985 Apr;22(2):131-4. doi: 10.1136/jmg.22.2.131.

DOI:10.1136/jmg.22.2.131
PMID:3989828
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049398/
Abstract

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome.

摘要

我们报告了6例科恩综合征患者的临床特征。其特征包括智力发育迟缓、躯干肥胖、门牙突出和手指逐渐变细。肾盂输尿管梗阻和癫痫被报告为该综合征可能的新特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/e54fb919a808/jmedgene00094-0053-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/4aad969747c8/jmedgene00094-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/7672fd84bb14/jmedgene00094-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/5246780e19d3/jmedgene00094-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/e54fb919a808/jmedgene00094-0053-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/4aad969747c8/jmedgene00094-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/7672fd84bb14/jmedgene00094-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/5246780e19d3/jmedgene00094-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e3e/1049398/e54fb919a808/jmedgene00094-0053-c.jpg

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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.科恩综合征的诊断标准、临床特征及自然病史。

本文引用的文献

1
Cardiac involvement in the Cohen syndrome: a case report.科恩综合征的心脏受累：一例报告
Clin Genet. 1980 May;17(5):317-9. doi: 10.1111/j.1399-0004.1980.tb00156.x.
2
The Cohen syndrome.科恩综合征
J Genet Hum. 1981 Dec;29(4):449-53.
3
Cohen syndrome: further delineation and inheritance.科恩综合征：进一步的描述与遗传方式
J Med Genet. 2003 Apr;40(4):233-41. doi: 10.1136/jmg.40.4.233.
4
The ophthalmic findings in Cohen syndrome.科恩综合征的眼科表现。
Br J Ophthalmol. 2002 Dec;86(12):1395-8. doi: 10.1136/bjo.86.12.1395.
5
Intrafamilial variation in Cohen syndrome.科恩综合征的家族内变异
J Med Genet. 1987 Aug;24(8):488-92. doi: 10.1136/jmg.24.8.488.
Am J Med Genet. 1981;9(1):25-30. doi: 10.1002/ajmg.1320090106.
4
The Cohen syndrome: report of five new cases and a review of the literature.科恩综合征：5例新病例报告及文献综述
J Craniofac Genet Dev Biol. 1982;2(3):193-200.
5
Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.
Eur J Pediatr. 1982 Jul;138(4):338-40. doi: 10.1007/BF00442512.
6
[Cohen syndrome, an autosomal recessive disease? (author's transl)].
Arch Fr Pediatr. 1982 Mar;39(3):159-60.
7
Sexual development in a girl with Cohen syndrome.一名患有科恩综合征女孩的性发育情况。
J Pediatr. 1982 Jun;100(6):1001. doi: 10.1016/s0022-3476(82)80541-6.
8
The Cohen syndrome: clinical and endocrinological studies of two new cases.科恩综合征：两例新病例的临床及内分泌学研究
J Med Genet. 1980 Dec;17(6):430-2. doi: 10.1136/jmg.17.6.430.
9
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.科恩综合征的进一步描述；关于脉络膜视网膜营养不良、白细胞减少症和近亲结婚的报告
Clin Genet. 1984 Jan;25(1):1-14. doi: 10.1111/j.1399-0004.1984.tb00456.x.
10
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.一种伴有肌张力减退、肥胖、智力缺陷以及面部、口腔、眼部和肢体异常的新综合征。
J Pediatr. 1973 Aug;83(2):280-4. doi: 10.1016/s0022-3476(73)80493-7.