Al-Qattan Mohammad M
Plastic and Hand Surgery Division, King Saud University, Riyadh, Saudi Arabia.
J Hand Surg Eur Vol. 2018 Sep;43(7):744-750. doi: 10.1177/1753193418758862. Epub 2018 Feb 16.
Preaxial polydactyly and radial longitudinal deficiency are usually viewed as two different entities. We present nine families with different disorders in which both preaxial polydactyly and radial longitudinal deficiency were seen in the phenotype. This indicates that both entities may be caused by the same developmental error or insult. The pathogenesis is complex and may be related to the interactions of two signalling loops: the first loop (named as the radial longitudinal deficiency loop) contains genes/proteins responsible for the development of the radial ray; and the second loop (named as the preaxial polydactyly loop) contains the Sonic Hedgehog involved in the pathogenesis of preaxial polydactyly. This entity is named as the preaxial polydactyly-radial longitudinal deficiency association and should be included in the description of the preaxial polydactyly spectrum.
IV.
轴前多指畸形和桡骨纵列发育不全通常被视为两种不同的病症。我们展示了九个患有不同疾病的家族，其表型中同时出现了轴前多指畸形和桡骨纵列发育不全。这表明这两种病症可能由相同的发育错误或损伤引起。其发病机制复杂，可能与两个信号通路的相互作用有关：第一个通路（称为桡骨纵列发育不全通路）包含负责桡侧射线发育的基因/蛋白质；第二个通路（称为轴前多指畸形通路）包含参与轴前多指畸形发病机制的音猬因子。这种病症被命名为轴前多指畸形 - 桡骨纵列发育不全综合征，应纳入轴前多指畸形谱系的描述中。
IV。
