You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.
Document Type
Article
Publication Date
2-1-2020
Identifier
DOI: 10.1177/1055665619868043
Abstract
Cantú syndrome (CS) is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the ABCC9 or KCNJ8 gene. The disorder is characterized by congenital generalized hypertrichosis, coarse acromegaloid facial features (broad nasal bridge, epicanthal folds, wide mouth, macroglossia), skeletal abnormalities (calvarial thickening, metaphyseal flares, coxa valga, scoliosis), tortuous vasculature (meningeal arteriovenous malformations), and cardiac abnormalities (patent ductus arteriosus, pericardial effusion). Despite the constellation of craniofacial features, there are currently no documented cases of a patient with CS having orthognathic surgery. The purpose of this report is to highlight the multidisciplinary collaboration, including establishment of a genetic diagnosis, cardiac management, and orthodontic therapy, in performing successful orthognathic surgery in a patient with CS.
Journal Title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Volume
57
Issue
2
First Page
249
Last Page
254
MeSH Keywords
Cardiomegaly; Genetic Diseases, X-Linked; Humans; Hypertrichosis; Orthognathic Surgery; Osteochondrodysplasias
Keywords
craniofacial morphology; dental occlusion; facial morphology; genetics; orthodontics; orthognathic surgery
Recommended Citation
Kurian C, Pinamonti G, Starling Hughes S, Martin J, Lypka M. You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. Cleft Palate Craniofac J. 2020;57(2):249-254. doi:10.1177/1055665619868043
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