睑裂狭小、上睑下垂、多乳头及短指（趾）症（BPPB）：一种新的常染色体显性综合征？
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?
作者信息
Wittebol-Post D, Hennekam R C
机构信息
F.C. Donders Institute of Ophthalmology, University Hospital Utrecht, The Netherlands.
出版信息
Clin Dysmorphol. 1993 Oct;2(4):346-50.
PMID:8305965
Abstract
A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.
摘要
本文报告了一位父亲和两个儿子患有睑裂狭小、上睑下垂、多乳头及短指畸形，显然无其他异常。这些特征不符合任何先前描述的综合征。尽管与睑裂狭小-上睑下垂-内眦赘皮综合征存在相似之处，但这种情况可能代表一种迄今未被描述的综合征。遗传方式可能为常染色体显性遗传。
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