Jones M C
Division of Dysmorphology, University of California, San Diego.
Cleft Palate J. 1990 Apr;27(2):136-40. doi: 10.1597/1545-1569(1990)027<0136:tnrbut>2.3.co;2.
This review sets forth a broadened interpretation of the neurocristopathies based on the current understanding of the role of neural crest cells in normal development. Two general types of cristopathies are defined predicated on the abnormal mechanism involved in production of the defect or condition. Defects and disorders which constitute the originally defined neurocristopathies including pheochromocytoma, neurofibromatosis, and the multiple endocrine adenomatoses are best explained as dysplasias of neural crest derivatives. Affected individuals rarely exhibit true malformation of structure but do carry a lifetime risk for disordered growth of crest derived tissue. On the other hand, defects and disorders which derive from migrational abnormalities primarily of cranial neural crest cells such as frontonasal dysplasia, the DiGeorge sequence, and Waardenberg syndrome represent true malformations. The spectrum of involvement is usually definable at the time of diagnosis and disordered growth of crest derived tissue does not occur. The clinical implications of this distinction are discussed.
基于目前对神经嵴细胞在正常发育中作用的理解，本综述提出了对神经嵴病变的更广泛解释。根据缺陷或病症产生所涉及的异常机制，定义了两种一般类型的嵴病变。构成最初定义的神经嵴病变的缺陷和病症，包括嗜铬细胞瘤、神经纤维瘤病和多发性内分泌腺瘤病，最好解释为神经嵴衍生物的发育异常。受影响的个体很少表现出真正的结构畸形，但确实终生面临嵴衍生组织生长紊乱的风险。另一方面，主要源于颅神经嵴细胞迁移异常的缺陷和病症，如额鼻发育异常、迪格奥尔格综合征和瓦登伯格综合征，则代表真正的畸形。受累范围通常在诊断时即可确定，且不会出现嵴衍生组织的生长紊乱。本文讨论了这种区分的临床意义。
