Reardon W, Winter R M
Mothercare Unit of Pediatric Genetics and Fetal Medicine, Institute of Child Health, London, UK.
Mol Med Today. 1995 Dec;1(9):432-7. doi: 10.1016/s1357-4310(95)90837-4.
Several monogenic disorders result in craniosynostosis, the premature fusion of skull sutures in the neonate, causing craniofacial malformation and, occasionally, neurological compromise. These malformations were initially classified on a clinical basis, but several recent reports have clarified the underlying mutations in many of these syndromes, allowing the complexity of the relationship between mutation and resultant phenotype to be viewed more clearly. This article summarizes the current situation regarding syndromic craniosynostosis, highlights the complementarity of clinical, cytogenetic and molecular approaches that have contributed to the improved understanding of the genetic basis of craniosynostosis, and considers the new challenges that have emerged.
几种单基因疾病会导致颅缝早闭，即新生儿颅骨缝线过早融合，从而引起颅面畸形，偶尔还会导致神经功能障碍。这些畸形最初是根据临床症状进行分类的，但最近的几份报告已经阐明了其中许多综合征的潜在突变，从而使人们能够更清楚地了解突变与所产生表型之间关系的复杂性。本文总结了综合征性颅缝早闭的现状，强调了临床、细胞遗传学和分子学方法的互补性，这些方法有助于更好地理解颅缝早闭的遗传基础，并探讨了由此出现的新挑战。
