Abstract:
:This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease. From the observations made in this family and from previous reports in the literature, we feel there is substantial reason to re-evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Escobar V,Bixler Ddoi
10.1111/j.1399-0004.1977.tb00920.xsubject
Has Abstractpub_date
1977-09-01 00:00:00pages
169-78issue
3eissn
0009-9163issn
1399-0004journal_volume
12pub_type
杂志文章abstract::The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively, are two of the four most common mutations in the BRCA1 gene in Greek breast cancer patients. They have been reported previously six and three times, respectively, in unrelated Greek families. A total of 11 more families have been identified i...
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journal_title:Clinical genetics
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pub_type: 杂志文章
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更新日期:1991-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02617.x
更新日期:1988-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560110.x
更新日期:1999-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1981-05-01 00:00:00
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更新日期:2003-01-01 00:00:00
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