Ellis-van Creveld Syndrome: Systemic And Oral Findings

Aims: To present a case of Ellis-van Creveld syndrome highlighting the systemic and oral manifestations and expand the phenotypic spectrum of the disorder. Case description: A 4-year-old female, with an initial diagnosis of Ellis-van Creveld syndrome, was referred for dental treatment. The patient had hexadactyly of the hands, thorax disproportionate to the shortened limbs, hypopigmented and dry skin, short stature, a wide gap between the 1st and 2nd toes of the right foot and markedly dystrophic toenails. The oral manifestations were upper labial frenulum causing large vestibule and absence of diastema, labiogingival frenulum, enamel hypoplasia, conical teeth, claw-like cusp, oligodontia, microdontia and malocclusion. Conclusions: Ellis-van Creveld syndrome is one among several syndromes with oral manifestations that demands the participation of a multidisciplinary team to better patient assessing, treatment and monitoring. Dentists have the leading role in the control and treatment of the oral manifestations.222109112Alves-Pereira, D., Berini-Aytés, L., Gay-Escoda, C., Ellis-Van Creveld Syndrome Case report and literature review (2009) Med Oral Patol Oral Cir Bucal, 14, pp. E340-E343da Silva, E.O., Janovitz, D., de Albuquerque, S.C., Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred (1980) J Med Genet, 17, pp. 349-356Kurian, K., Shanmugan, S., Harsh Vardah, T., Chondroectodermal dysplasia (Ellis-van Creveld syndrome) A report of three cases with review of literature (2007) Indian J Dent Res, 18, pp. 31-34Hills, C.B., Kochilas, L., Schimmenti, L.A., Ellis-van Creveld syndrome and congenital heart defects: Presentation of an additional 32 cases (2011) Pediatr Cardiol, 32, pp. 977-982Tompson, S.W., Ruiz-Perez, V.L., Blair, H.J., Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients (2007) Hum Genet, 120, pp. 663-670Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis (2000) Nat Genet, 24, pp. 283-286Galdzicka, M., Patnala, S., Hirshman, M.G., A new gene, EVC2, is mutated in Ellis-van Creveld syndrome (2002) Mol Genet Metab, 77, pp. 291-295Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome (2003) Am J Hum Genet, 72, pp. 728-732Ruiz-Perez, V.L., Goodship, J.A., Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands (2009) Am J Med Genet C Semin Med Genet, 151 C, pp. 341-351Biggerstaff, R.H., Mazaheri, M., Oral manifestations of the Ellis-van Creveld syndrome (1968) J Am Dent Assoc, 77, pp. 1090-1095Aminabadi, N.A., Ebrahimi, A., Oskouei, S.G., Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report (2010) J Oral Sci, 52, pp. 333-336Hunter, M.L., Roberts, G.J., Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case (1998) Intern J Paed Dent, 8, pp. 153-157Fukuda, A., Kato, K., Hasegawa, M., Recurrent knee valgus deformity in Ellis-van Creveld syndrome (2012) J Pediatr Orthop B, 21, pp. 352-355Cahuana, A., Palma, C., Oral manifestations in Ellis-van Creveld syndrome (2004) Report of five cases. Pediatr Dent., 26, pp. 277-282Souza, R.C., Martins, R.B., Okida, Y., Giovani, M., Ellis-van Creveld syndrome: oral manifestations and treatment (2010) J Health Sci Inst, 28, pp. 241-243Kalaskar, R., Kalaskar, R.A., Oral manifestations of Ellis-van Creveld syndrome (2012) Contemp Clin Dent, 3, pp. S55-S5

Current Surgical Techniques For Cleft Lip-palate In Minas Gerais, Brazil [técnicas Cirúrgicas Correntes Para Fissuras Lábio-palatinas, Em Minas Gerais, Brasil]

Cleft lip and palate (CL/P) are the most common congenital anomalies of the craniofacial region. Aim: to evaluate the surgical techniques used in CL/P treatment in a craniofacial deformities ward, in Minas Gerais. Materials and Methods: In this retrospective study, carried out between 2002 and 2007, we studied 109 individuals with non-syndromic CL/P submitted to treatment. The aspects analyzed (personal identification, classification of CL/P and surgical treatment performed) were obtained from patient charts, and then we built a database and ran statistical analyses through the SPSS 13.0 software. Followed by descriptive analysis of the surgical procedures depending on the type of CL/P found. Results: Among the 109 patients, 65.1% were males and 34.8% females. We found that 45% of patients had cleft lip and palate, 37.6% cleft lip only and 17.4% cleft palate only. The surgical techniques employed were predominantly those from Millard and Spina for cheiloplasty, McComb for rhinoplasty and, Veau and Van Langenbeeck for palatoplasty. Conclusions: This study is the first to address treatment procedures for individuals with CL/P in the state of Minas Gerais. For unilateral CL/P we predominantly used the association of McComb, Veau and Millard techniques, respectively, for rhinoplasty, palatoplasty and cheiloplasty, in 76.9% of the patients. © Revista Brasileira de Otorrinolaringologia. All Rights reserved.756Finnell, R.H., Greer, K.A., Barber, R.C., Piedrahita, J.A., Neural tube and craniofacial defects with special emphasis on folate pathway genes (1998) Crit Rev Oral Biol Med, 9 (3), pp. 38-53Gordon, J.E., Shy, C.M., Agricultural chemical use and congenital cleft lip and/or palate (1981) Arch Environ Health, 36 (3), pp. 213-221Tolarová, M.M., Cervenka, J., Classification and birth prevalence of orofacial clefts (1998) Am J Med Genet, 75 (2), pp. 126-137(1995) Notifications 1992, , OPCS Congenital malformation statistics, London: HMSO;Cobourne, M.T., The complex genetics of cleft lip and palate (2004) Eur J Orthod, 26 (4), pp. 7-16Fogh-Andersen, P., (1942) Inherance of harelip and cleft palate: Contribution to the elucidation of the etiology of the congenital clefts of the face 1942, , Dissertation, Copenhagen: Busck;Martelli-Júnior, H., Orsi-Júnior, J., Chaves, M.R., Barros, L.M., Bonan, P.R.F., Freitas, J.A.S., Estudo epidemiológico das fissuras labiais e palatais em Alfenas, Minas Gerais, de 1986 a 1998. (2006) Rev Fac Odontol Univ São Paulo, 13 (1), pp. 31-35Schliekelman, P., Slatkin, M., Multiplex relative risk and estimation of the number of loci underlying and inherited disease (2002) Am J Hum Genet, 71 (3), pp. 1369-1385Vieira, A.R., Unraveling human cleft lip and palate research (2008) J Dent Res, 87 (2), pp. 119-125Wantia, N., Rettinger, G., The current understanding of cleft lip malformations (2002) Facial Plast Surg, 18 (4), pp. 147-153Spina, V., Psillakis, J.M., Lapa, F.S., Ferreira, M.C., Classificação das fissuras lábio-palatinas. (1972) Rev Hosp Clin Fac Med S Paulo, 27 (2), pp. 5-6Sitzman, T.J.S., Girotto, J.A., Marcus, J.F., Current surgical practices in cleft care: Unilateral cleft lip repair (2008) Plast Reconstr Surg, 121 (2), pp. 261-270Figueiredo, I.M.B., Bezerra, A.L., Marques, A.C.L., Rocha, I.M., Monteiro, N.R., Tratamento cirúrgico de fissuras palatinas completas. (2004) RBPS, 17 (3), pp. 154-160Derijcke, A., Eerens, A., Carels, C., The birth prevalence of oral clefts: A review (1996) Br J Oral Maxillofac Surg, 34 (2), pp. 488-494Vanderas, A.P., Birth prevalence of cleft lip, cleft palate and cleft lip and palate among races: A review (1987) Cleft Palate J, 24 (5), pp. 147-153Martelli-Junior, H., Porto, L.C.V.P., Barbosa, D.R.B., Bonan, P.R.F., Freitas, A.B., Coletta, R.D., Prevalence of nonsyndromic oral clefts in a reference hospital in Minas Gerais State, between 2000-2005 (2007) Braz Oral Res, 21 (4), pp. 314-317Franco, D., Gonçalves, L.F., Franco, T., Management of cleft lip and palate in Brazil (2003) Scand J Plast Reconstr Surg Hand Surg, 37 (4), pp. 272-276Bardach, J., Morris, H.L., Olin, W.H., Results of multidisciplinary management of bilateral cleft lip and palate at the Iowa Cleft Plate Center (1992) Plast Reconstr Surg, 89 (5), pp. 419-435Boorman, J.G., Treatment of cleft lip and palate in the UK (1998) Br J Plast Surg, 51 (2), pp. 167-16