Alves A F, Azevedo E S
J Med Genet. 1977 Apr;14(2):139-41. doi: 10.1136/jmg.14.2.139.
Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view.
弗里曼-谢尔顿综合征是一种罕见的遗传性疾病，在一些家族中呈常染色体显性遗传，但在大多数报告病例中呈散发性出现。在本文中，我们报告了一个家庭，该家庭中来自正常近亲父母的两个孩子患病，这表明从遗传学角度来看，弗里曼-谢尔顿综合征可能具有异质性。
