一种伴有屈曲指、关节挛缩、面部异常和骨骼缺陷的新综合征：一例报告及屈曲指相关综合征综述
A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly.
作者信息
Rozin M M, Hertz M, Goodman R M
出版信息
Clin Genet. 1984 Oct;26(4):342-55. doi: 10.1111/j.1399-0004.1984.tb01070.x.
Abstract
A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty-four syndromes associated with camptodactyly are summarized and reviewed.
摘要
在一名16岁的西班牙裔犹太女孩中描述了一种新的弯曲指综合征，其特征包括面容异常伴多种眼部异常、身材矮小、脊柱侧弯和关节挛缩。父母近亲结婚提示为常染色体隐性遗传模式，不过也不能排除新的常染色体显性突变。总结并回顾了与弯曲指相关的44种综合征。
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