Title

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

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