Al-Qattan M M, Almazyad M, Shamseldin H, Alkuraya F S
Department of Surgery and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
J Hand Surg Eur Vol. 2010 Nov;35(9):715-20. doi: 10.1177/1753193410378954. Epub 2010 Jul 21.
Dorsal dimelia is a form of duplication along the dorsoventral axis of the developing limb. Previous authors reporting on this rare entity have stated that the essential feature of the deformity is the presence of double or circumferential nail at the tip of the finger and that the aetiology is probably related to a mutation of Engrailed-1 (En-1). In this paper we report on two cases to demonstrate that the deformity in humans may be fully or partially expressed, with or without the double nail deformity, respectively. We also reviewed reported cases in humans and experimental animals and searched our two cases for candidate causative genes within the En-1 pathway.
背侧多指畸形是发育中肢体沿背腹轴重复的一种形式。此前报道这一罕见病症的作者指出，该畸形的基本特征是手指末端出现双指甲或环形指甲，其病因可能与Engrailed-1（En-1）基因突变有关。在本文中，我们报告了两例病例，以证明人类的这种畸形可能分别完全或部分表现出来，有或没有双指甲畸形。我们还回顾了人类和实验动物的报道病例，并在我们的两例病例中搜索En-1途径中的候选致病基因。
