Learman Y, Katznelson M B, Bonné-Tamir B, Engel J, Hertz M, Goodman R M
Am J Med Genet. 1981;10(3):245-55. doi: 10.1002/ajmg.1320100308.
We report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.
我们报告了一种新的常染色体显性疾病，该疾病累及一位阿拉伯父亲及其11个孩子中的5个的手和脚。这种特征表现为关节粘连、并指（趾）、D型短指（趾）、手指弯曲和大小鱼际肌发育不全。受影响者有关节粘连和并指（趾），以及其他一些或全部或部分异常。关节粘连是该综合征的主要缺陷，表现出可变的表达性。在所有受影响的亲属中观察到一种独特的皮纹模式。进行了连锁研究；然而，未证明存在连锁关系。
