Oral findings in Midline Syndrome: a case report and literature review.
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.
Tallón-Walton
Victòria
V
Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Spain.
Nieminen
Pekka
P
Arte
Sirpa
S
Ustrell-Torrent
Josep Maria
JM
Carvalho-Lobato
Patricia
P
Manzanares-Céspedes
Maria Cristina
MC
D000015:Abnormalities, Multiple / Q000175:diagnosis; D061085:Agenesis of Corpus Callosum; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis; D003103:Coloboma / Q000175:diagnosis; D004677:Encephalocele / Q000175:diagnosis; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007498:Iris / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis