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Three‐dimensional facial morphology in Cantú syndrome

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP‐sensitive potassium (K(ATP)) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardio...

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Autores principales: Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217184/
https://www.ncbi.nlm.nih.gov/pubmed/32100467
http://dx.doi.org/10.1002/ajmg.a.61517
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author Roessler, Helen I.
Shields, Kathleen
Grange, Dorothy K.
Knoers, Nine V.A.M.
van Haaften, Gijs
Hammond, Peter
van Haelst, Mieke M.
author_facet Roessler, Helen I.
Shields, Kathleen
Grange, Dorothy K.
Knoers, Nine V.A.M.
van Haaften, Gijs
Hammond, Peter
van Haelst, Mieke M.
author_sort Roessler, Helen I.
collection PubMed
description Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP‐sensitive potassium (K(ATP)) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal folds, and prominent lips. Many genetic syndromes, such as CS, involve facial anomalies that serve as a significant clue in the initial identification of the respective disorder before clinical or molecular diagnosis are undertaken. However, an overwhelming number of CS patients receive misdiagnoses based on an evaluation of coarse facial features. By analyzing three‐dimensional images of CS faces, we quantified facial dysmorphology in a cohort of both male and female CS patients with confirmed ABCC9 variants. Morphometric analysis of different regions of the face revealed gender‐specific significant differences in face shape. Moreover, we show that 3D facial photographs can distinguish between CS and other genetic disorders with specific facial dysmorphologies that have been mistaken for CS‐associated anomalies in the past, hence assisting in an earlier clinical and molecular diagnosis. This optimizes genetic counseling and reduces stress for patients and parents by avoiding unnecessary misdiagnosis.
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spelling pubmed-72171842020-05-13 Three‐dimensional facial morphology in Cantú syndrome Roessler, Helen I. Shields, Kathleen Grange, Dorothy K. Knoers, Nine V.A.M. van Haaften, Gijs Hammond, Peter van Haelst, Mieke M. Am J Med Genet A Original Articles Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP‐sensitive potassium (K(ATP)) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal folds, and prominent lips. Many genetic syndromes, such as CS, involve facial anomalies that serve as a significant clue in the initial identification of the respective disorder before clinical or molecular diagnosis are undertaken. However, an overwhelming number of CS patients receive misdiagnoses based on an evaluation of coarse facial features. By analyzing three‐dimensional images of CS faces, we quantified facial dysmorphology in a cohort of both male and female CS patients with confirmed ABCC9 variants. Morphometric analysis of different regions of the face revealed gender‐specific significant differences in face shape. Moreover, we show that 3D facial photographs can distinguish between CS and other genetic disorders with specific facial dysmorphologies that have been mistaken for CS‐associated anomalies in the past, hence assisting in an earlier clinical and molecular diagnosis. This optimizes genetic counseling and reduces stress for patients and parents by avoiding unnecessary misdiagnosis. John Wiley & Sons, Inc. 2020-02-26 2020-05 /pmc/articles/PMC7217184/ /pubmed/32100467 http://dx.doi.org/10.1002/ajmg.a.61517 Text en © 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Roessler, Helen I.
Shields, Kathleen
Grange, Dorothy K.
Knoers, Nine V.A.M.
van Haaften, Gijs
Hammond, Peter
van Haelst, Mieke M.
Three‐dimensional facial morphology in Cantú syndrome
title Three‐dimensional facial morphology in Cantú syndrome
title_full Three‐dimensional facial morphology in Cantú syndrome
title_fullStr Three‐dimensional facial morphology in Cantú syndrome
title_full_unstemmed Three‐dimensional facial morphology in Cantú syndrome
title_short Three‐dimensional facial morphology in Cantú syndrome
title_sort three‐dimensional facial morphology in cantú syndrome
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217184/
https://www.ncbi.nlm.nih.gov/pubmed/32100467
http://dx.doi.org/10.1002/ajmg.a.61517
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