Utilizad este identificador para citar o enlazar este documento: http://hdl.handle.net/2072/224412

Oral findings in Midline Syndrome: a case report and literature review
Tallón-Walton, Victòria; Nieminen, Pekka; Arte, Sirpa; Ustrell i Torrent, Josep Maria, 1953-; Carvalho Lobato, Patricia; Manzanares Céspedes, María Cristina
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.
27-02-2014
Malformacions
Malformacions dentals
Human abnormalities
Dental abnormalities
(c) Medicina Oral SL, 2010
Artículo
info:eu-repo/semantics/publishedVersion
Medicina Oral SL
         

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