Al-Qattan M M
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.
Ann Plast Surg. 2013 Jan;70(1):116-8. doi: 10.1097/SAP.0b013e31822f9960.
Fanconi anemia is known to be associated with radial ray deficiency (thumb and radius hypoplasia), and its embryological basis remains to be poorly understood. We describe a rare case of Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia. The embryological basis of limb abnormalities in Fanconi anemia patients is thought to be based on the complex interactions between the apical ectodermal ridge (where Fanconi anemia genes are expressed) and both the mesoderm (where Spalt-like 4 (SALL4) and Sonic hedgehog (SHH) are located and which are responsible for radial ray deficiency, thumb polydactyly, and triphalangism) and the dorsoventral axis (an error in that axis leads to dorsal dimelia).
已知范可尼贫血与桡骨射线缺陷（拇指和桡骨发育不全）有关，但其胚胎学基础仍知之甚少。我们描述了一例罕见的范可尼贫血病例，同时伴有拇指多指畸形和背侧双肢畸形。范可尼贫血患者肢体异常的胚胎学基础被认为基于顶端外胚层嵴（范可尼贫血基因在此表达）与中胚层（Spalt样4（SALL4）和音猬因子（SHH）位于此处，它们负责桡骨射线缺陷、拇指多指畸形和指骨三联症）以及背腹轴（该轴的错误会导致背侧双肢畸形）之间的复杂相互作用。
