Hoyme H E, Jones K L, Nyhan W L, Pauli R M, Robinow M
Department of Pediatrics, University of Arizona College of Medicine, Tucson.
J Pediatr. 1987 Oct;111(4):538-43. doi: 10.1016/s0022-3476(87)80114-2.
The association of ectrodactyly and absence of long bones of the upper or lower extremities has been recognized previously in nine families. We report 24 additional individuals in four families who are similarly affected. Two of these families manifest the unusual feature of unilateral preaxial polydactyly of a lower extremity. Data from these four families plus the nine previously reported suggest that ectrodactyly associated with absence of long bones of the upper or lower limbs is a genetically determined disorder, inherited as an autosomal dominant trait with widely variable expression or nonpenetrance.
之前在9个家族中已确认存在并指畸形与上肢或下肢长骨缺失的关联。我们报告了另外4个家族中的24名同样受影响的个体。其中两个家族表现出下肢单侧轴前多指畸形这一不寻常特征。来自这4个家族的数据加上之前报告的9个家族的数据表明，与上肢或下肢长骨缺失相关的并指畸形是一种由基因决定的疾病，以常染色体显性性状遗传，表现广泛可变或外显不全。
