Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Fahad A. Alghaith; Heleen H. Arts; Francois J. Plourde; Andrew Boswall; Partima Gulati; P. Daniel McNeely; Philip D. Acott; Kenny K. Wong; Sarah Dyack

doi:10.1002/ajmg.a.63023

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Fahad A. Alghaith, Heleen H. Arts, Francois J. Plourde, Andrew Boswall, Partima Gulati, P. Daniel McNeely, Philip D. Acott, Kenny K. Wong, Sarah Dyack

Medicine

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

3 Citas (Scopus)

Resumen

Congenital heart defect (CHD) is a birth defect that affects the structure of the heart. Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is caused by de novo variants in PKRD1. Here, we describe a patient with a novel de novo variant of PKRD1 with phenotypic features consistent with CHDED. Previously unreported features were noted including high intracranial pressure (ICP), partial anomalous pulmonary venous return (PAPVR), and bifid uvula. We suggest that these features may be associated with CHDED.

Idioma original	English
Publicación	American Journal of Medical Genetics, Part A
DOI	https://doi.org/10.1002/ajmg.a.63023
Estado	Accepted/In press - 2022

Nota bibliográfica

Funding Information:
We sincerely thank the patient and family for their participation in this study and for their consent to publish this case report. This work is supported by the Dalhousie University – Faculty of Medicine Webster Family Fund for Research.

Publisher Copyright:
© 2022 Wiley Periodicals LLC.

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

PubMed: MeSH publication types

Case Reports

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Alghaith, F. A., Arts, H. H., Plourde, F. J., Boswall, A., Gulati, P., McNeely, P. D., Acott, P. D., Wong, K. K., & Dyack, S. (Aceptado/En prensa). Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature. American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.63023

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature. / Alghaith, Fahad A.; Arts, Heleen H.; Plourde, Francois J. et al.
En: American Journal of Medical Genetics, Part A, 2022.

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

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abstract = "Congenital heart defect (CHD) is a birth defect that affects the structure of the heart. Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is caused by de novo variants in PKRD1. Here, we describe a patient with a novel de novo variant of PKRD1 with phenotypic features consistent with CHDED. Previously unreported features were noted including high intracranial pressure (ICP), partial anomalous pulmonary venous return (PAPVR), and bifid uvula. We suggest that these features may be associated with CHDED.",

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AU - Gulati, Partima

AU - McNeely, P. Daniel

AU - Acott, Philip D.

AU - Wong, Kenny K.

AU - Dyack, Sarah

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Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

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