Craniosynostosis is a feature of Costello syndrome. Issue 4 (28th December 2021)

• Record Type: Journal Article
• Authors: Weaver, K. Nicole; Care, Marguerite; Wakefield, Emily; Zarate, Yuri A.; Skoch, Jesse; Gripp, Karen W.; Prada, Carlos E.
• Is Part Of: American journal of medical genetics. Volume 188:Issue 4(2022)
• Page Start: 1280
• Page End: 1286
• Publication Date: 2021-12-28
• Subjects: Chiari I -- Costello syndrome -- craniofacial -- craniosynostosis -- RASopathy; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62620
• Languages: English
• ISSNs: 1552-4825

Abstract

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.