Noonan syndrome: clinical features
Evidence-based neurology checklist on noonan syndrome: clinical features: Cranial features Macrocephaly Dolichocephaly Triangular face with a high forehead Curly hair Chiari malformation Craniosynostosis Ophthalmic features Facial and dental features Cardiac features Cancer risk Skeletal features…
Cranial features
- Macrocephaly
- Dolichocephaly
- Triangular face with a high forehead
- Curly hair
- Chiari malformation
- Craniosynostosis
Ophthalmic features
Facial and dental features
Cardiac features
Cancer risk
Skeletal features
Other features
References
- Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25:161-179.
- Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43:833-842.
- Ejarque I, Millán-Salvador JM, Oltra S, et al. Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway. Rev Neurol 2015; 60:408-412.
- Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N. Craniosynostosis in patients with RASopathies: accumulating clinical evidence for expanding the phenotype. Am J Med Genet A 2017; 173:2346-2352.
- Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011; 157C:83-89.
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