De Coster Peter, De Pauw Guy, Martens Luc, De Paepe Anne
Department of Paediatric Dentistry, Center for Special Care, Paecamed Research, University of Ghent, B-9000 Ghent, Belgium.
Am J Med Genet A. 2004 Dec 15;131(3):240-8. doi: 10.1002/ajmg.a.30393.
Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance. Mutations in the FBN1 gene cause deficient processing of fibrillin-1, the main constituent of extracellular microfibrils, affecting tissues displaying elastic properties. Clinical manifestations are widespread and involve the skeletal, ocular, cardiovascular and pulmonary systems, skin and integumentum, and dura. A highly arched palate and retrognathia have been assigned to the symptoms with minor diagnostic specificity, although epidemiological data on prevalence are lacking yet. Twenty-six patients with MFS (n = 26) were studied for craniofacial characteristics using cephalometric measurements on lateral cranial radiographs. The purposes of this study were (1) to compare cephalometric variables of MFS group with age- and sex-matched population norms, and (2) to assess differences in palatal vault dimensions among adult MFS (n = 17) and matched controls (n = 32) by means of cephalometric measurements. Significant differences with population norms were found in the structures of the cranial base, the maxillary complex, the mandible body, and the relations of the jaws with respect to the cranial base and to each other. Palatal height and palatal length were significantly larger in MFS, and were significantly correlated to each other and to the height of the maxillo-alveolar processus. The present data disprove in part previously reported findings, possibly due to biased patient selection in these studies or demographic differences. However, a strong correlation was found between maxillary/mandibular retrognathia, long face, highly arched palate, and MFS. A combination of both intrinsic genetic factors and environmental factors is suggested as a possible explanation for specific morphogenetic aspects of the craniofacial complex in MFS.
马凡综合征（MFS）是一种常染色体显性遗传的结缔组织疾病。FBN1基因突变导致细胞外微原纤维的主要成分原纤蛋白-1加工缺陷，影响具有弹性特性的组织。临床表现广泛，累及骨骼、眼部、心血管和肺部系统、皮肤和被膜以及硬脑膜。尽管目前缺乏关于患病率的流行病学数据，但高拱腭和下颌后缩已被归为诊断特异性较低的症状。本研究对26例马凡综合征患者进行了头颅侧位X线片的头影测量，以研究其颅面特征。本研究的目的是：（1）将马凡综合征组的头影测量变量与年龄和性别匹配的人群标准进行比较；（2）通过头影测量评估成年马凡综合征患者（n = 17）和匹配对照组（n = 32）的腭穹窿尺寸差异。研究发现，颅底、上颌复合体、下颌体以及颌骨与颅底之间和相互之间的关系结构与人群标准存在显著差异。马凡综合征患者的腭高和腭长显著更大，且彼此之间以及与上颌牙槽突高度显著相关。目前的数据部分反驳了先前报道的结果，这可能是由于这些研究中患者选择存在偏差或人口统计学差异。然而，发现上颌/下颌后缩、长脸、高拱腭与马凡综合征之间存在强烈相关性。内在遗传因素和环境因素的结合被认为是马凡综合征颅面复合体特定形态发生方面的一种可能解释。
