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Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

作者信息

Goecke T, Majewski F, Kauther K D, Sterzel U

出版信息

Eur J Pediatr. 1982 Jul;138(4):338-40. doi: 10.1007/BF00442512.

DOI:10.1007/BF00442512
PMID:7128643
Abstract

Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.

摘要

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引用本文的文献

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Cohen syndrome combined with psychiatric symptoms: a case report.科恩综合征合并精神症状:一例报告。
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Cohen Syndrome: Review of the Literature.科恩综合征:文献综述
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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
Cohen syndrome: further delineation and inheritance.科恩综合征:进一步的描述与遗传方式
Am J Med Genet. 1981;9(1):25-30. doi: 10.1002/ajmg.1320090106.
3
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. 2003 Apr;40(4):233-41. doi: 10.1136/jmg.40.4.233.
4
The clinical features of the Cohen syndrome: further case reports.科恩综合征的临床特征:更多病例报告
J Med Genet. 1985 Apr;22(2):131-4. doi: 10.1136/jmg.22.2.131.
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.
6
Growth hormone deficiency in a girl with the Cohen syndrome.一名患有科恩综合征女孩的生长激素缺乏症
J Med Genet. 1991 Jan;28(1):48-50. doi: 10.1136/jmg.28.1.48.
J Med Genet. 1980 Dec;17(6):430-2. doi: 10.1136/jmg.17.6.430.
4
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.
5
Confirmation of the Cohen syndrome.科恩综合征的确诊。
J Pediatr. 1978 Aug;93(2):239-44. doi: 10.1016/s0022-3476(78)80504-6.