Med Oral Patol Oral Cir Bucal. 2010 Jul 1;15 (4):e579-82. Oral findings in Midline Syndrome e579 Journal section: Oral Medicine and Pathology doi:10.4317/medoral.15.e579 Publication Types: Case Report Oral findings in Midline Syndrome: A case report and literature review Victòria Tallón-Walton 1 , Pekka Nieminen 2,3 , Sirpa Arte 2,3 , Josep Mª Ustrell-Torrent 4 , Patricia Carvalho- Lobato 1 , Mª Cristina Manzanares-Céspedes 1 1 DDS PhD, MD PhD Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Spain 2 MD PhD Institute of Dentistry, Biomedicum, University of Helsinki, Finland 3 MD PhD Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland 4 MD PhD Odonto-Stomatology Department, Faculty of Dentistry, Barcelona University, Spain Correspondence: Human Anatomy and Embryology Unit Campus de Bellvitge, Barcelona University 5305, Pavelló de Govern, 5ª planta. Feixa Llarga, s/n 08907 -L´Hospitalet del Llobregat. Barcelona – Spain mcmanzanares@ub.edu Received: 18/06/2009 Accepted: 23/12/2009 Abstract We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, en- cephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very char- acteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyo- type and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of the midline syndrome in carriers as well as in the patients. Key words: Craniofacial development, dental anomalies, hypodontia, craniofacial anomalies. Tallón-Walton V, Nieminen P, Arte S, Ustrell-Torrent JM, Carvalho-Lo- bato P, Manzanares-Céspedes MC. Oral findings in Midline Syndrome: A case report and literature review. Med Oral Patol Oral Cir Bucal. 2010 Jul 1;15 (4):e579-82. http://www.medicinaoral.com/medoralfree01/v15i4/medoralv15i4p579.pdf Article Number: 2979 http://www.medicinaoral.com/ © Medicina Oral S. L. C.I.F. B 96689336 - pISSN 1698-4447 - eISSN: 1698-6946 eMail: medicina@medicinaoral.com Indexed in: -SCI EXPANDED -JOURNAL CITATION REPORTS -Index Medicus / MEDLINE / PubMed -EMBASE, Excerpta Medica -SCOPUS -Indice Médico Español Introduction Embryological development is under a strict system of control involving hundreds of known genes. Mutations of these genes, as well as environmental factors, have been associated with the etiology of certain congeni- tal syndromes and conditions. Specifically, some have been related to human midline and bilateral symmetry defects (1-3), for instance the Opitz G/BBB syndrome, hypospadias-dysphagia syndrome, a rare condition as- sociated with midline abnormalities such as laryngo- tracheo-esophageal cleft, cleft lip and palate, heart anomalies, genito-urinary defects and agenesis of the corpus callosum (4). Its genetic etiology is complex, consisting of both X-linked recessive and autosomal dominant forms (5). The oro-facial-digital syndrome is a heterogeneous group