Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

References

1. 1.↵
   2. Rauen KA

   . The RASopathies. Annu Rev Genomics Hum Genet 2013;14:355–69 doi:10.1146/annurev-genom-091212-153523 pmid:23875798

   CrossRefPubMedWeb of Science
2. 2.↵
   2. Aoki Y,
   3. Niihori T,
   4. Inoue S, et al

   . Recent advances in RASopathies. J Hum Genet 2016;61:33–39 doi:10.1038/jhg.2015.114 pmid:26446362

   CrossRefPubMed
3. 3.↵
   2. Roberts AE,
   3. Allanson JE,
   4. Tartaglia M, et al

   . Noonan syndrome. Lancet 2013;381:333–42 doi:10.1016/S0140-6736(12)61023-X pmid:23312968

   CrossRefPubMedWeb of Science
4. 4.↵
   2. Gelb BD,
   3. Roberts AE,
   4. Tartaglia M

   . Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol 2015;39:13–19 doi:10.1016/j.ppedcard.2015.01.002 pmid:26380542

   CrossRefPubMed
5. 5.↵
   2. Myers A,
   3. Bernstein JA,
   4. Brennan ML, et al

   . Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Am J Med Genet A 2014;164A:2814–21 doi:10.1002/ajmg.a.36737 pmid:25250515

   CrossRefPubMed
6. 6.↵
   2. Peiris A,
   3. Ball MJ

   . Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome. J Neurol Neurosurg Psychiatry 1982;45:753–54 doi:10.1136/jnnp.45.8.753 pmid:7131003

   FREE Full Text
7. 7.↵
   2. Gripp KW,
   3. Zand DJ,
   4. Demmer L, et al

   . Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A 2013;161A:2420–30 doi:3010.1002/ajmg.a.36098 pmid:23918763

   CrossRefPubMed
8. 8.↵
   2. Hinnant CA

   . Noonan syndrome associated with thromboembolic brain infarcts and posterior circulation abnormalities. Am J Med Genet 1995;56:241–24 doi:10.1002/ajmg.1320560226 pmid:7625454

   CrossRefPubMedWeb of Science
9. 9.↵
   2. Ueda K,
   3. Yaoita M,
   4. Niihori T, et al

   . Craniosynostosis in patients with RASopathies: accumulating clinical evidence for expanding the phenotype. Am J Med Genet 2017;173:2346–52 doi:10.1002/ajmg.a.38337 pmid:28650561

   CrossRefPubMed
10. 10.↵
    2. Brasil AS,
    3. Pereira AC,
    4. Wanderley LT, et al

    . PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genet Test Mol Biomarkers 2010;14:425–32 doi:10.1089/gtmb.2009.0192 pmid:20578946

    CrossRefPubMed
11. 11.↵
    2. Nyström AM,
    3. Ekvall S,
    4. Stromberg B, et al

    . A severe form of Noonan syndrome and autosomal dominant cafe-au-lait spots: evidence for different genetic origins. Acta Paediatr 2009;98:693–98 doi:10.1111/j.1651-2227.2008.01170.x pmid:19120036

    CrossRefPubMedWeb of Science
12. 12.↵
    2. Hüppi PS,
    3. Warfield S,
    4. Kikinis R, et al

    . Quantitative magnetic resonance imaging of brain development in premature and mature newborns. Ann Neurol 1998;43:224–35 doi:10.1002/ana.410430213 pmid:9485064

    CrossRefPubMedWeb of Science
13. 13.↵
    2. Moss ML,
    3. Noback CR

    . Differential growth of the human brain. J Comp Neurol 1956;105:539–51 doi:10.1002/cne.901050306 pmid:13385383

    CrossRefPubMed
14. 14.↵
    2. Rehder R,
    3. Yang E,
    4. Cohen AR

    . Variation of the slope of the tentorium during childhood. Childs Nerv Syst 2016;32:441–50 doi:10.1007/s00381-015-2899-8 pmid:26362679

    CrossRefPubMed
15. 15.↵
    2. Meyer-Marcotty P,
    3. Böhm H,
    4. Linz C, et al

    . Three-dimensional analysis of cranial growth from 6 to 12 months of age. Eur J Orthod 2014;36:489–96 doi:10.1093/ejo/cjt010 pmid:25257925

    CrossRefPubMed
16. 16.↵
    2. Cao H,
    3. Alrejaye N,
    4. Klein OD, et al

    . A review of craniofacial and dental findings of the RASopathies. Orthod Craniofac Res 2017;20:32–38 doi:10.1111/ocr.12144 pmid:28643916

    CrossRefPubMed
17. 17.↵
    2. Jeffery N,
    3. Spoor F

    . Brain size and the human cranial base: a prenatal perspective. Am J Phys Anthropol 2002;118:324–40 doi:10.1002/ajpa.10040 pmid:12124913

    CrossRefPubMedWeb of Science
18. 18.↵
    2. Nemzek WR,
    3. Brodie HA,
    4. Hecht ST, et al

    . MR, CT, and plain film imaging of the developing skull base in fetal specimens. AJNR Am J Neuroradiol 2000;21:1699–706 pmid:11039353

    Abstract/FREE Full Text
19. 19.↵
    2. Matras H,
    3. Watzek G,
    4. Perneczky A

    . Cephalometric observations in premature craniosynostosis. J Maxillofac Surg 1977;5:298–303 doi:10.1016/S0301-0503(77)80122-7 pmid:271189

    CrossRefPubMedWeb of Science
20. 20.↵
    2. Naficy S,
    3. Shepard NT,
    4. Telian SA

    . Multiple temporal bone anomalies associated with Noonan syndrome. Otolaryngol Head Neck Surg 1997;116:265–67 doi:10.1016/S0194-5998(97)70339-5 pmid:9051078

    CrossRefPubMed
21. 21.↵
    2. Addissie YA,
    3. Kotecha U,
    4. Hart RA, et al

    . Craniosynostosis and Noonan syndrome with KRAS mutations: expanding the phenotype with a case report and review of the literature. Am J Med Genet A 2015;167A:2657–63 doi:10.1002/ajmg.a.37259 pmid:26249544

    CrossRefPubMed
22. 22.↵
    2. Sokolov AA,
    3. Miall RC,
    4. Ivry RB

    . The cerebellum: adaptive prediction for movement and cognition. Trends Cogn Sci 2017;21:313–32 doi:10.1016/j.tics.2017.02.005 pmid:28385461

    CrossRefPubMed
23. 23.↵
    2. Limperopoulos C

    . The vulnerable immature cerebellum. Semin Fetal Neonatal Med 2016;21:293–94 doi:10.1016/j.siny.2016.07.002 pmid:27481764

    CrossRefPubMed
24. 24.↵
    2. Stoodley CJ,
    3. Limperopoulos C

    . Structure-function relationships in the developing cerebellum: evidence from early-life cerebellar injury and neurodevelopmental disorders. Semin Fetal Neonatal Med 2016;21:356–64 doi:10.1016/j.siny.2016.04.010 pmid:27184461

    CrossRefPubMed