Fried K, Mundel G
J Med Genet. 1974 Jun;11(2):141-4. doi: 10.1136/jmg.11.2.141.
An Egyptian Jewish family in which polysyndactyly is transmitted through four generations with 17 affected individuals is presented. The malformation is caused by an autosomal dominant gene with full penetrance and variable expressivity. In the newborn propositus the gene was fully expressed producing polysyndactyly of both hands and both feet. The mother had polysyndactyly of the feet but only syndactyly of the third and fourth fingers of the right hand and a post minimi on the left hand. In addition she had Marfan's syndrome due to a new mutation and transmitted Marfan's syndrome to one of her daughters who did not have polysyndactyly. Apparently the association of Marfan's syndrome with polysyndactyly has not been previously described.
本文介绍了一个埃及犹太家庭，其中多指（趾）畸形在四代人中传递，共有17名患者。这种畸形由一个具有完全外显率和可变表达性的常染色体显性基因引起。在新生的先证者中，该基因充分表达，导致双手和双脚均出现多指（趾）畸形。母亲双脚有多指（趾）畸形，但右手仅第三和第四指并指，左手有一个小指赘生。此外，她因新的突变患有马凡氏综合征，并将马凡氏综合征遗传给了她的一个没有多指（趾）畸形的女儿。显然，马凡氏综合征与多指（趾）畸形的关联此前尚未见报道。
