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尖头并指(趾)畸形(作者译)

[Acrocephalosyndactyly (ACS) (author's transl)].

作者信息

Fajardo Carmona A V, Pascual Castroviejo I

出版信息

An Esp Pediatr. 1975 Nov-Dec;8(6):639-50.

PMID:174468
Abstract

13 cases of ACS are presented: seven of them were identified as Apert's syndrome; two as Chotzen's syndrome; three as Carpenter's syndrome, and one as Pfeiffer's syndrome. These disorders have no known ethiology. However, it is necessary to look for diabetic antecedents and dermatogliphus alterations, both in the patient and the parents. An attempt to give an explanation of their hereditary penetrance is made. Frequency of associated abnormalities, mental retardation, therapeutics, prognosis, and recent encouraging results of plastic surgery of the face are reviewed.

摘要

本文报告了13例尖头并指(趾)综合征(ACS)病例:其中7例被诊断为Apert综合征;2例为Crouzon综合征;3例为Carpenter综合征,1例为Pfeiffer综合征。这些病症的病因尚不清楚。然而,有必要在患者及其父母中寻找糖尿病病史和皮纹改变。本文尝试对其遗传外显率作出解释。同时回顾了相关异常、智力发育迟缓、治疗方法、预后情况,以及近期面部整形手术取得的鼓舞人心的成果。

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1
[Acrocephalosyndactyly (ACS) (author's transl)].尖头并指(趾)畸形(作者译)
An Esp Pediatr. 1975 Nov-Dec;8(6):639-50.
2
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Filippi syndrome: report of three additional cases.菲利皮综合征:另外三例报告。
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[Acrocephalopolysyndactyly (type II (McKusick) acrocephalosyndactyly or Carpenter's syndrome. Report on 4 cases and an observation of the syndrome of Marshall-Smith (author's transl)].
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Apert's syndrome (acrocephalosyndactyly). A description and a report on seven cases.阿佩尔综合征(尖头并指畸形)。七例病例描述及报告。
Clin Pediatr (Phila). 1975 Nov;14(11):1054-62. doi: 10.1177/000992287501401112.
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Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?尖头并指综合征是单一基因缺陷的可变表达吗?
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[Syndromes 2. Pfeiffer syndrome].[综合征2. 费弗综合征]
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