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Case Reports
. 2022 Apr;188(4):1280-1286.
doi: 10.1002/ajmg.a.62620. Epub 2021 Dec 28.

Craniosynostosis is a feature of Costello syndrome

K Nicole Weaver  1   2 , Marguerite Care  2   3 , Emily Wakefield  1 , Yuri A Zarate  4 , Jesse Skoch  5 , Karen W Gripp  6 , Carlos E Prada  1   2   7
Affiliations
Case Reports

Craniosynostosis is a feature of Costello syndrome

K Nicole Weaver et al. Am J Med Genet A. 2022 Apr.

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.

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References

REFERENCES

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