Schendel S A, Pearl R M, De'Armond S J
Division of Plastic Surgery, Stanford University Medical School, Calif.
Plast Reconstr Surg. 1989 May;83(5):777-84. doi: 10.1097/00006534-198905000-00002.
Although attention has been focused for decades on the correction of cleft lip deformities, our knowledge about the etiology of such deformities has remained presumptive. Sixty-six muscle biopsy specimens from cleft lip infants were obtained at the time of primary closure. Histochemical stains, histographic analysis, and electron microscopy were performed. A nonneurogenic muscle atrophy was seen that varied in severity, with muscle fibers near the cleft being the most atrophic and disorganized. Muscle fibers stained with the modified Gomori trichrome technique also demonstrated "ragged red" fibers typical of a mitochondrial myopathy. Electron microscopy confirmed large accumulations of mitochondria distorting the fibrils. These mitochondria also were increased in size and densely packed with cristae. This study thus demonstrates that the muscles in cleft lip deformities are not normal. Instead, they reflect either myopathy in the facial mesenchymal mitochondrion or at least a delay in maturation. We hypothesize that some of the morphologic deformities associated with cleft lip may cause a failure of mesenchymal reinforcement of the facial processes at a critical time in development.
尽管几十年来人们一直专注于唇裂畸形的矫正，但我们对这类畸形病因的了解仍只是推测性的。在一期缝合时获取了66例唇裂婴儿的肌肉活检标本。进行了组织化学染色、组织学分析和电子显微镜检查。发现了一种非神经源性肌肉萎缩，其严重程度各异，裂隙附近的肌纤维萎缩和紊乱最为明显。用改良的Gomori三色染色技术染色的肌纤维也显示出线粒体肌病典型的“破碎红”纤维。电子显微镜证实大量线粒体堆积使肌原纤维变形。这些线粒体大小也增加，且充满紧密排列的嵴。因此，本研究表明唇裂畸形中的肌肉不正常。相反，它们反映了面部间充质线粒体的肌病或至少是成熟延迟。我们推测，与唇裂相关的一些形态学畸形可能在发育的关键时期导致面部突起的间充质强化失败。
