Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Files

607231.pdf (349.09 KB)

Document type

Article

Version

Published version

Publication date

2010-07-01

All rights reserved

Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/50644

Oral findings in Midline Syndrome: a case report and literature review

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

http://dx.doi.org/10.4317/medoral.15.e579

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.

Subject

Malformacions, Malformacions dentals

Subject (English)

Human abnormalities, Dental abnormalities

Citation

Collections

Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citation

TALLÓN-WALTON, Victòria, et al. Oral findings in Midline Syndrome: a case report and literature review. Medicina Oral. Patología Oral y Cirugia Bucal. Vol.  2010, num. 15, pags. 4. ISSN 1698-4447. [consulted: 17 of August of 2026]. Available at: https://hdl.handle.net/2445/50644

Export metadata

JSON - METS

Share record