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

Med Oral Patol Oral Cir Bucal 2010 Jul 1;15(4):e579-82. Epub 2010 Jul 1.

Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Spain.

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.

Download full-text PDF

Source
http://dx.doi.org/10.4317/medoral.15.e579DOI Listing
July 2010
5 Reads

Publication Analysis

Top Keywords

dental anomalies
12
midline syndrome
12
phenotypical traits
8
dental
5
characteristic phenotypical
4
msx1 pax9
4
coincide exactly
4
identified msx1
4
traits coincide
4
pax9 mutations
4
rarely mentioned
4
anomalies despite
4
cleft palate
4
reporting midline
4
submucosal cleft
4
palate dental
4
agenesis large
4
mentioned reporting
4
number malformation
4
despite characteristic
4

Similar Publications