Craniosynostosis is a feature of Costello syndrome

K Nicole Weaver; Marguerite Care; Emily Wakefield; Yuri A Zarate; Jesse Skoch; Karen W Gripp; Carlos E Prada

doi:10.1002/ajmg.a.62620

Craniosynostosis is a feature of Costello syndrome

Am J Med Genet A. 2022 Apr;188(4):1280-1286. doi: 10.1002/ajmg.a.62620. Epub 2021 Dec 28.

Authors

K Nicole Weaver^{1

2}, Marguerite Care^{2

3}, Emily Wakefield¹, Yuri A Zarate⁴, Jesse Skoch⁵, Karen W Gripp⁶, Carlos E Prada^{1

2

7}

Affiliations

¹ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
² Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
³ Department of Radiology, Cincinnati, Ohio, USA.
⁴ Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
⁵ Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
⁶ Division of Medical Genetics, A.I. DuPont Hospital for Children/Nemours, Wilmington, Delaware, USA.
⁷ Division of Genetics, Birth Defects, and Metabolism, Ann and Robert Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

PMID: 34964243
DOI: 10.1002/ajmg.a.62620

Abstract

Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.

Keywords: Chiari I; Costello syndrome; RASopathy; craniofacial; craniosynostosis.

Publication types

Case Reports

MeSH terms

Costello Syndrome* / diagnosis
Costello Syndrome* / genetics
Craniosynostoses* / diagnosis
Craniosynostoses* / genetics
Ectodermal Dysplasia*
Facies
Failure to Thrive
Humans
Noonan Syndrome*