Witkop C J
Int Dent J. 1976 Dec;26(4):378-90.
Many inherited disorders have oral manifestations which can be detected on dental radiographs as alterations in the morphology or chemical composition of the teeth. Thus the dentist may be the first to detect disorders of development and metabolism of importance to the general health of the patient and his family. In one group of conditions the pulp chamber is larger than normal. This may be associated with taurodontism in such conditions as polyploidy of the -X chromosome and trisomy-21 or Down's syndrome. Taurodontism also occurs in a variety of other syndromes including the tricho-dento-osseous syndrome described by Robinson, Miller and Worth (1966) and Mohr's syndrome. It may also be associated with scanty hair endoligodentia. In certain metabolic conditions the pulp chamber may be enlarged but the teeth are of relatively normal from (cynodont). Such cases include hypophosphatemic vitamin D-resistant and dependent rickets, pseudo-hypoparthyroidism otodental syndrome and hypophosphatasia. Small pulp chambers and associated anomalies of root morphology also occur in hereditary disorders either alone or as part of various syndromes such as dentino-osseous dysplasia and brackioskeletogenital syndrome. Dentinogenesis imperfecta may occur alone or as one manifestation of osteogenesis imperfecta. Other developmental defects including pulpal dysplasia, labodontia and dens invaginatus are also associated with small pulp chambers.
许多遗传性疾病都有口腔表现,这些表现在牙科X光片上可被检测到,表现为牙齿形态或化学成分的改变。因此,牙医可能是第一个发现对患者及其家人的整体健康至关重要的发育和代谢紊乱的人。在一组病症中,牙髓腔比正常情况大。这可能与诸如X染色体多倍体和21三体综合征或唐氏综合征等病症中的牛牙症有关。牛牙症也发生在多种其他综合征中,包括罗宾逊、米勒和沃思(1966年)描述的毛发-牙-骨综合征以及莫尔综合征。它也可能与毛发稀少、牙列稀疏有关。在某些代谢性病症中,牙髓腔可能会扩大,但牙齿形态相对正常(犬齿状)。此类病症包括低磷性维生素D抵抗性和依赖性佝偻病、假性甲状旁腺功能减退牙耳综合征以及低磷酸酯酶症。小牙髓腔以及相关的牙根形态异常也会单独出现在遗传性疾病中,或者作为各种综合征的一部分出现,如牙本质骨发育异常和短肢骨骼生殖器综合征。牙本质发育不全可能单独出现,也可能作为成骨不全的一种表现出现。其他发育缺陷,包括牙髓发育异常、牙列异常和牙内陷,也与小牙髓腔有关。