Heutink P, Vermeij-Keers C, Oostra B A
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
Eur J Hum Genet. 1995;3(5):312-23. doi: 10.1159/000472315.
Craniosynostosis syndromes are developmental disorders that cause an abnormal shape of the skull due to the premature fusion of cranial sutures. Enormous progress has been made recently in understanding the genetic background of these disorders and a classification of syndromes on a genetic basis is beginning to emerge. Members of at least three gene families that play an important role in vertebrate development are associated with different craniosynostosis syndromes. Here we review the genetic aspects of this fast-moving field.
颅缝早闭综合征是一种发育障碍，由于颅缝过早融合导致颅骨形状异常。最近在了解这些疾病的遗传背景方面取得了巨大进展，基于遗传的综合征分类也开始出现。至少三个在脊椎动物发育中起重要作用的基因家族成员与不同的颅缝早闭综合征相关。在此，我们综述这一快速发展领域的遗传学方面。
