División de Genética, Fundación Operación Sonrisa Colombia, Bogotá, Colombia.
Am J Med Genet A. 2010 Jul;152A(7):1770-3. doi: 10.1002/ajmg.a.33428.
This is a report of an additional patient affected by hemifacial myohyperplasia (HMH). We postulate that this condition originates around the fourth gestational week at any step of cranial muscle development from somitomeres to branchial arches, most probably due to prolonged period of proliferation during cranial muscle development, subsequent abnormal contact between cranial neural crest (CNC) cells and cranial myoblasts, and an impaired interaction among CNC cells and cranial myoblasts derivatives. HMH may represent another example of somatic mosaicism and its features can be explained by a combination of morphostatic and morphodynamic mechanisms of pattern formation during development. Here we suggest that HMH is a sequence in which the primary defect is hyperplasia of the facial muscles and the other findings are secondary to this.
这是一例患有面肌营养过度症（HMH）的附加患者报告。我们推测这种情况起源于妊娠第 4 周，在从体节到鳃弓的颅肌发育的任何阶段，最有可能是由于颅肌发育过程中增殖期延长，随后颅神经嵴（CNC）细胞和颅肌母细胞之间异常接触，以及 CNC 细胞和颅肌母细胞衍生物之间的相互作用受损。HMH 可能代表另一种体细胞镶嵌现象，其特征可以通过发育过程中形态发生的形态稳定和形态动力学机制的组合来解释。在这里，我们认为 HMH 是一个序列，其中主要缺陷是面部肌肉增生，而其他发现则是继发于此。
