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RESEARCH PRODUCT
Oral findings in Midline Syndrome: a case report and literature review
Josep Maria Ustrell-torrentVictòria Tallón-waltonMaria Cristina Manzanares-céspedesSirpa ArtePatricia Carvalho-lobatoPekka Nieminensubject
medicine.medical_specialtyIrisEncephalocele03 medical and health sciences0302 clinical medicinestomatognathic systemMidline syndromeDental abnormalitiesmedicineHumansAbnormalities MultipleHypertelorismChildAgenesis of the corpus callosumGeneral DentistryEncephalocele030304 developmental biology0303 health sciencesHypertelorismTooth Abnormalitiesbusiness.industryDental agenesisSyndrome:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseDermatologyIris coloboma3. Good healthSurgeryCleft PalateColobomastomatognathic diseasesPhenotypeOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASEtiologyFemaleSurgeryMalformacionsAgenesis of Corpus Callosummedicine.symptombusinessMalformacions dentalsHuman abnormalitiesPAX9030217 neurology & neurosurgerydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2010-01-01 |