一个意大利家庭两代人中的拉森综合征。
Larsen syndrome in two generations of an Italian family.
作者信息
Ventruto V, Festa F, Sebastio L, Sebastio G
出版信息
J Med Genet. 1976 Dec;13(6):538-9. doi: 10.1136/jmg.13.6.538.
Abstract
This paper describes a familial case of Larsen syndrome. Typical anomalies were present in the propositus and 2 of his 6 daughters. In addition, all patients had progressive deafness and the 2 daughters had cleft palate. The certain exclusion of any consanguinity between the couple, suggests, in this instance, the dominant mode of transmission of the syndrome.
摘要
本文描述了一例拉森综合征的家族病例。先证者及其6个女儿中的2个出现了典型的异常症状。此外，所有患者均有进行性耳聋，其中2个女儿患有腭裂。这对夫妇之间不存在任何血缘关系，由此推测，在该病例中，该综合征为显性遗传模式。
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Larsen syndrome in two generations of an Italian family.一个意大利家庭两代人中的拉森综合征。
J Med Genet. 1976 Dec;13(6):538-9. doi: 10.1136/jmg.13.6.538.
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本文引用的文献
1
Multiple congenital dislocations associated with characteristic facial abnormality.多种先天性脱位伴特征性面部异常。
J Pediatr. 1950 Oct;37(4):574-81. doi: 10.1016/s0022-3476(50)80268-8.
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Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.
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Autosomal dominant inheritance in Larsen's syndrome.拉森综合征的常染色体显性遗传。
Clin Genet. 1971;2(2):87-90. doi: 10.1111/j.1399-0004.1971.tb00260.x.
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[Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate].
Ann Radiol (Paris). 1972 Mar-Apr;15(3):297-328.
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