Original Article

Volume: 3 | Issue: 2 | Published: Sep 28, 2020 | Pages: 54 - 59 | DOI: 10.24911/JBCGenetics/183-1594283408

Genetic and clinical approach to macrocephaly: a 5-year single-center study

Authors: Muhsin Elmas , Umit Can Yildirim

Article Info

Authors

Muhsin Elmas

Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey

Umit Can Yildirim

Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey

Publication History

Received: July 09, 2020

Revised: August 22, 2020

Accepted: September 09, 2020

Published: September 28, 2020

Abstract

Background: Macrocephaly is a condition where the head circumference is larger than the 97th percentile or 2 standard deviations. It can be a harmless trait in benign familial macrocephaly or can be seen as a component of some pathologic condition. In this article, we aimed to uncover the genetic background and clinical presentation of macrocephaly. Methods: In this retrospective study, we selected macrocephaly patients with a definitive genetic diagnosis, among 2,000 patients who were admitted to our clinic between 2014 and 2019. The data were accessed from archive. Results: The genetic testing results showed that the most common genetic causes of macrocephaly in the patients were achondroplasia (25%), neurofibromatosis type 1 (12.5%), Sotos syndrome type 1 (12.5%), and Cowden syndrome (12.5%). Conclusion: Several congenital conditions, chromosomal anomalies, and molecular mutations may cause macrocephaly. A combination of good clinical history, physical examination, and genetic testing plays a vital role in the diagnosis process.

Keywords: Chromosomal microarray analysis, copy number variants, macrocephaly, mutation, whole exome sequencing

Open access Creative Commons License

Pubmed Style

Muhsin Elmas, Umit Can Yildirim. Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBC Genetics. 2020; 28 (September 2020): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Web Style

Muhsin Elmas, Umit Can Yildirim. Genetic and clinical approach to macrocephaly: a 5-year single-center study. https://www.jbcgenetics.com/index.php/articles/2154 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1594283408

AMA (American Medical Association) Style

Muhsin Elmas, Umit Can Yildirim. Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBC Genetics. 2020; 28 (September 2020): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Vancouver/ICMJE Style

Muhsin Elmas, Umit Can Yildirim. Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBC Genetics. (2020), [cited April 27, 2025]; 28 (September 2020): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Harvard Style

Muhsin Elmas, Umit Can Yildirim (2020) Genetic and clinical approach to macrocephaly: a 5-year single-center study. JBC Genetics, 28 (September 2020): 54-59. doi:10.24911/JBCGenetics/183-1594283408

Chicago Style

Muhsin Elmas, Umit Can Yildirim. "Genetic and clinical approach to macrocephaly: a 5-year single-center study." 28 (2020), 54-59. doi:10.24911/JBCGenetics/183-1594283408

MLA (The Modern Language Association) Style

Muhsin Elmas, Umit Can Yildirim. "Genetic and clinical approach to macrocephaly: a 5-year single-center study." 28.September 2020 (2020), 54-59. Print. doi:10.24911/JBCGenetics/183-1594283408

APA (American Psychological Association) Style

Muhsin Elmas, Umit Can Yildirim (2020) Genetic and clinical approach to macrocephaly: a 5-year single-center study. , 28 (September 2020), 54-59. doi:10.24911/JBCGenetics/183-1594283408