Journal of Clinical and Diagnostic Research. 2018 Jan, Vol-12(1): ZC14-ZC17 14 14 DOI: 10.7860/JCDR/2018/31188.11099 Original Article A 3D Geometric Morphometric Analysis of the Palatal Morphology in Marfan’s Syndrome: A Preliminary Study Dentistry Section INTRODUCTION Marfan’s Syndrome is an autosomal dominant inherited multisystem disorder that occurs worldwide and affects both sexes equally. The incidence of MS is estimated to be two to three per 10,000 individuals without any racial predilection [1]. Classic MS occurs due to mutations in the FBN1 gene localised on chromosome 15q21, which encodes the matrix protein fibrillin 1; although, it is documented that 25% of the sporadic cases led to de novo mutations in zones which are several distant base pairs from this gene sequence [2]. In a minority of cases (less than 10%) with a typical Marfan phenotype, no mutation in FBN1 is identified [2]. Marfan’s Syndrome may affect various apparatus including the cardiovascular, musculoskeletal, central nervous, pulmonary, ocular and integumentary systems. Aortic dissection, congestive heart failure and cardiac valve disease are the most common causes of death in more than 90% of subjects affected by MS and, thus the primary causes of reduction in life expectancy [3]. Oral manifestations of MS are identifiable during a routine intraoral examination. It is well known that MS frequently entails local hypoplastic enamel spots, root and crown deformity, abnormal pulp shape, pulpal inclusions, calculus and gingival indices. Dental agenesis was reported with a lower prevalence (1.45%) [4], if compared with general population (7.1%) [5], but more researches are needed. Temporomandibular alterations are more frequently detected in Marfan subjects caused by an articular deformation and ligament hyperlaxity [6]. A number of craniofacial characteristics, mainly comprising maxillary/mandibular retrognathia, long face and skeletal open bite tendency show a strong correlation with MS [7]. There is no data available in the literature with regard to morphological characteristics of the maxilla in MS assessed by 3D morphometric analysis. The maxillary arch morphology in MS has been usually assessed measuring transverse dental distances only by clinical evaluation or study casts [8]. This kind of measurements did not consider the influence of dental inclination and position on the alveolar bone, often altered in Marfan subjects. Moreover, bidimensional analysis gave incomplete information about the morphology of the palatal vault in the three dimensions of the space. Considering these limitations, an evaluation of 3D characteristics of the maxilla by means of 3D laser technology may be preferred [9], in order to obtain a better comprehension of MS oral manifestations. Geometric morphometrics analysis has been proposed in the literature as an original method of visualisation of shape changes [10,11]. It can show three-dimensional morphological changes in their complexity, in a more efficient way rather than traditional bidimensional measurements. To our knowledge, no study has been conducted on Marfan subjects using these analyses. The aim of this preliminary study was to use 3D geometric morphometrics in order to evaluate the variability of palatal shape in a group of Marfan subjects as compared with a CG. MATERIALS AND METHODS In the present preliminary cross-sectional study, a group of five male subjects with a mean age of 9.1±0.8 years, with a clinical diagnosis of MS, were recruited from the Centre for Rare Diseases for Marfan Syndrome and Related Disorders of Tor Vergata University Hospital during the period of December 2016 to April 2017. The subjects were evaluated in the Departments of Orthodontics of the same University. The inclusion criteria for MG were genetic assessment of MS, Caucasian ancestry, intermediate mixed dentition (first permanent molars and incisors erupted), prepubertal stage of cervical vertebral GIUSEPPINA LAGANÀ 1 , NICOLÒ VENZA 2 , VALERIA PAOLONI 3 , FABIO BERTOLDO 4 , GIOVANNI RUVOLO 5 , PAOLA COZZA 6 Keywords: Digital dental casts, Laser scanning, Palatal shape ABSTRACT Introduction: Marfan’s Syndrome (MS) is a multisystem disorder of the connective tissue. A number of oral manifestations and craniofacial characteristics show a strong correlation with MS. There are no data available in the literature with regard to morphological characteristics of the maxilla in Marfan’s syndrome assessed by 3D morphometric analysis. Aim: To use geometric morphometric analysis in order to evaluate the characteristics of palatal shape in a group of Marfan subjects compared with a control group. Materials and Methods: For this preliminary study, a group of five male subjects (mean age of 9.1±0.8 years) with a clinical diagnosis of MS were selected for the Marfan Group (MG). The Control Group (CG) was composed of five non-syndromic male subjects (mean age 9.3±0.6) years. Maxillary study casts of all subjects were scanned using an extraoral scanner. Landmarks and semi landmarks were digitized (239 landmarks) and geometric morphometric methods were used. Procrustes analysis was applied and principal component analysis was performed to reveal the main patterns of palatal shape variation. Results: A statistically significant difference between the palate’s shape of MG and CG was found. The variability described by the first principal component was morphologically the most significant because it defines the 65.7% of total shape variability and describes changes in all three dimensions. MG mainly presents alteration of the palatal vault in the vertical plane and in the transverse dimension of the posterior region. Conclusion: Marfan subjects have a specific palatal morphology characterised by high palatal vault and narrow maxillary posterior region.