Poswillo D
Department of Oral and Maxillofacial Surgery, Guy's Hospital, London, UK.
Development. 1988;103 Suppl:207-12. doi: 10.1242/dev.103.Supplement.207.
Craniofacial malformations have been recorded since time immemorial. While observational studies have assisted in the recognition of syndromes, little light has been shed on the causal mechanisms which interfere with craniofacial development. Animal studies in which malformations occur spontaneously or have been induced by teratogenic agents have permitted step-by-step investigation of such common deformities as cleft lip and palate. The role of the ectomesenchymal cells of the neural crest and the possible phenomenon of disorganized spontaneous cell death are described in relation to lip clefts. The factors associated with isolated cleft palate, Pierre Robin syndrome and submucous clefts are described by reference to animal models. The haemorrhagic accident preceding the onset of craniofacial microsomia is discussed as is the distinctly different phenomenon of disturbance to the migration or differentiation of neural crest cells in the pathogenesis of Treacher Collins syndrome. The more severe anomalies of the calvarium such as plagiocephaly, Crouzon and Apert syndrome still defy explanation, in the absence of an appropriate animal system to study; some thoughts on the likely mechanism of abnormal sutural fusions are discussed.
颅面畸形自古以来就有记载。虽然观察性研究有助于识别综合征，但对于干扰颅面发育的因果机制却知之甚少。在动物研究中，畸形要么自发出现，要么由致畸剂诱发，这使得人们能够逐步研究唇腭裂等常见畸形。本文描述了神经嵴外胚间充质细胞的作用以及无序自发细胞死亡的可能现象与唇裂的关系。通过参考动物模型，阐述了与孤立性腭裂、皮埃尔·罗宾综合征和黏膜下腭裂相关的因素。讨论了颅面短小畸形发病前的出血性意外，以及在特雷彻·柯林斯综合征发病机制中神经嵴细胞迁移或分化受到干扰这一明显不同的现象。由于缺乏合适的动物系统进行研究，颅骨更为严重的异常，如斜头畸形、克鲁宗综合征和阿佩尔综合征，仍然无法解释；文中讨论了关于异常缝合融合可能机制的一些想法。
