这篇综述旨在总结近期在综合症性牙本质缺陷方面的进展，促进对具有牙本质畸形的系统性疾病、涉及分子以及相关机制的更好理解。对牙本质畸形相关的遗传性疾病文献进行了综合，包括 PubMed、OMIM、NCBI 和其他网站。然后对这些疾病的临床表型和遗传背景进行了总结、分析和比较。研究超过 10 种系统性疾病，包括易碎性骨症、低磷性佝偻病、依赖维生素 D 的佝偻病、家族性肿瘤钙化、艾勒斯-丹洛斯综合症、希姆克免疫-骨 dysplasia、低磷酸酶症、埃尔萨希-沃特斯综合症、辛格尔顿-默滕综合症、牙骨软骨发育不良和小头畸形性初级侏儒症类型 II。这些疾病大多数是骨病，它们的致病基因可能调节牙本质和骨发育，涉及细胞外基质、细胞分化以及钙、磷和维生素 D 的代谢。这些综合症性牙本质缺陷的表型因涉及到的基因而异，其中一部分类似于牙本质发育不良或牙本质畸形，而其他则仅呈现一两种牙本质畸形，例如变色、不规则扩大或消失的牙髓和管道，或根部畸形。与系统性疾病相关的某些特定牙本质缺陷可能作为牙医诊断的重要表型。此外，对综合症性牙本质缺陷的机制研究可能为孤立牙本质缺陷以及普通牙本质发育或矿化提供宝贵的洞见。©2023 Wiley Periodicals LLC.

This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.References on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrome, Singleton-Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.Some specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.© 2023 Wiley Periodicals LLC.