Joseph C, Landru M M, Bdeoui F, Gogly B, Dridi S M
Dept. Dentistry, Albert Chenevier-Henri Mondor Hospital, Paris 5 René Descartes, University, France.
Eur Arch Paediatr Dent. 2008 Sep;9(3):142-7. doi: 10.1007/BF03262626.
Williams Beuren syndrome (WBS) is an unusual hereditary connective tissue disease caused by a microdeletion at position 7q11-23 and a haploinsufficiency at the elastin gene. The most frequent specific features are elf-like face, alteration of cognitive functions and cardiovascular diseases including isolated supravalvular aortic stenosis. A number of clinical findings have been reported, but none of the studies evaluating this syndrome consider the oral cavity. It is equally surprising that the gingival tissue, which carries a perfectly structured elastic fibre network, has not yet been investigated. It is important to verify whether subjects affected by WBS are more susceptible to periodontal disease than healthy subjects who are not that much affected, for periodontal disease may have deleterious effects on the cardiovascular system.
In an attempt to address this issue, the oral manifestations of 8 patients (ages from 5 to 12 years) with WBS have been investigated: dental examination, periodontal examination (gingival phenotype, plaque control record, gingival index, bone quality).
All patients had oral parafunction, tooth number abnormalities and malocclusions. Average gingival height and width were greater than normal. Plaque index was always very high except for one patient, but the gingival inflammation was not linked to the quantity of clinical plaque index. There was no obvious loss of attachment.
As with collagen, elastin is a structural macromolecule of the gingiva. These components play an important role in gingival function and in the resistance of the periodontium to daily aggressions. Unlike genetic diseases characterized by impairment of collagen macrofibrils, it is suggested that the hemizygous gene encoding elastin does not result in periodontal disease. In addition there is an existence of a possible concordance between the elastin gene haploinsufficiency and the periodontal phenotype. There might be some adaptive process to this deficiency.
威廉姆斯-贝伦综合征（WBS）是一种罕见的遗传性结缔组织疾病，由7q11-23位置的微缺失和弹性蛋白基因的单倍剂量不足引起。最常见的特定特征是小精灵样面容、认知功能改变以及心血管疾病，包括孤立性主动脉瓣上狭窄。已有多项临床研究报道，但尚无评估该综合征时考虑口腔情况的研究。同样令人惊讶的是，携带结构完美的弹性纤维网络的牙龈组织尚未得到研究。鉴于牙周疾病可能对心血管系统产生有害影响，因此有必要验证WBS患者是否比未受该疾病过多影响的健康受试者更易患牙周疾病。
为解决这一问题，对8例年龄在5至12岁的WBS患者的口腔表现进行了研究：牙科检查、牙周检查（牙龈表型、菌斑控制记录、牙龈指数、骨质）。
所有患者均有口腔功能异常、牙齿数目异常和错牙合畸形。牙龈平均高度和宽度大于正常。除1例患者外，菌斑指数始终很高，但牙龈炎症与临床菌斑指数的数量无关。未见明显的附着丧失。
与胶原蛋白一样，弹性蛋白是牙龈的一种结构大分子。这些成分在牙龈功能以及牙周组织抵抗日常侵袭方面发挥着重要作用。与以胶原蛋白原纤维受损为特征的遗传性疾病不同，推测编码弹性蛋白的半合子基因不会导致牙周疾病。此外，弹性蛋白基因单倍剂量不足与牙周表型之间可能存在一致性。针对这种缺陷可能存在某种适应性过程。
