Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/50644
Title: Oral findings in Midline Syndrome: a case report and literature review
Author: Tallón-Walton, Victòria
Nieminen, Pekka
Arte, Sirpa
Ustrell i Torrent, Josep Maria, 1953-
Carvalho Lobato, Patricia
Manzanares Céspedes, María Cristina
Keywords: Malformacions
Malformacions dentals
Human abnormalities
Dental abnormalities
Issue Date: 1-Jul-2010
Publisher: Medicina Oral SL
Abstract: We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype 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.
Note: Reproducció del document publicat a: http://dx.doi.org/10.4317/medoral.15.e579
It is part of: Medicina Oral, Patología Oral y Cirugia Bucal, 2010, vol. 15, num. 4, p. 579-582
Related resource: http://dx.doi.org/10.4317/medoral.15.e579
URI: http://hdl.handle.net/2445/50644
ISSN: 1698-4447
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)

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