Oral findings in Midline Syndrome: A case report and literature review
Med. oral patol. oral cir. bucal (Internet)
; 15(4): 579-582, jul. 2010. ilus
Article
in English
| IBECS
| ID: ibc-95165
Responsible library:
ES1.1
Localization: BNCS
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 themidline syndrome in carriers as well as in the patients (AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Tooth Abnormalities
/
Craniofacial Abnormalities
/
Acrocallosal Syndrome
/
Anodontia
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Med. oral patol. oral cir. bucal (Internet)
Year:
2010
Document type:
Article
Institution/Affiliation country:
Barcelona University/Spain
/
University of Helsinki/Finland