Cardiofaciocutaneus syndrome: literature review and case report
https://doi.org/10.17650/2222-8721-2018-8-4-49-53
Abstract
The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.
About the Authors
V. V. Umnov
The Turner Scientific and Research Institute for Children’s Orthopedics of Russia
Russian Federation
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
Russian Federation
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
N. V. Nikitina
The Turner Scientific and Research Institute for Children’s Orthopedics of Russia
Russian Federation
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
Russian Federation
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
A. M. Khodorovskaya
North Western State Medical University named after I.I. Mechnikov
Russian Federation
Russian Federation
Chair of pediatric traumatology and orthopedics The Turner Scientific and Research Institute for Children’s Orthopedics of Russia
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
O. V. Barlova
The Turner Scientific and Research Institute for Children’s Orthopedics of Russia
Russian Federation
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
Russian Federation
64–68 Parkovaya St., 196603 Pushkin, Saint Petersburg
References
1. Baraitser M., Patton M.A. A Noonan-like short stature syndrome with sparse hair. J Med Genet 1986;23(2):161–4. PMID: 3712393. DOI: 10.1136/jmg.23.2.161.
2. Reynolds J.F., Neri G., Herrmann J.P. et al. New multiple congenital anomalies/ mental retardation syndrome with cardiofaciocutaneous involvement – the CFC syndrome. Am J Med Genet 1986;25(3):413–27. PMID: 3789005. DOI: 10.1002/ajmg.1320250303.
3. Abe Y., Aoki Y., Kuriyama S. et al. Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardiofaciocutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A 2012;158A(5): 1083–94. PMID: 22495831. DOI: 10.1002/ajmg.a.35292.
4. Roberts A., Allanson J., Jadico S.K. The cardiofaciocutaneous syndrome. J Med Genet 2006;43:833–42. PMID: 16825433. DOI: 10.1136/jmg.2006.042796.
5. Umnov V.V., Umnov D.V. Patent RU No. 2372041, 2009. Method of treatment of flat-valgus foot deformities in children. (In Russ.).
6. Rauen K.A. The RAS-pathies. Annu Rev Genomics Hum Genet 2013;14(1):355– 69. PMID: 23875798. DOI: 10.1146/annurev-genom-091212-153523.
7. Tidyman W.E., Rauen K.A. Expansion of the RAS-pathies. Curr Genet Med Rep 2016;4(3):57–64. PMID: 27942422. DOI: 10.1007/s40142-016-0100-7.
8. Yoon S., Seger R. The extracellular signalregulated kinase: multiple substrates regulate diverse cellular functions. Growth Factors 2006;24(1):21–44. PMID: 16393692. DOI: 10.1080/02699050500284218.
9. Grebe T.A., Clericuzio C. Neurological and gastrointestinal dysfunction in cardiofaciocutaneous syndrome: identification of a severe phenotype. Am J Med Genet 2000;95:135–43. PMID: 11078563. DOI: 10.1002/1096-8628(20001113)95:2<135::AID-AJMG8>3.3.CO;2-A.
10. Kavamura M.I., Pomponi M.G., Zollino M. et al. PTPN11 mutations are not responsible for the cardiofaciocutaneous (CFC) syndrome. European journal of human genetics 2003;11(1):64–8. PMID: 12529707. DOI: 10.1038/sj.ejhg.5200911.
11. Yoon G., Rosenberg J., Blaser S., Rauen K.A. Neurological complications of cardiofaciocutaneous syndrome. Dev Med Child Neurol 2007;49(12): 894–9. PMID: 18039235. DOI: 10.1111/j.1469-8749.2007.00894.x.
12. Manci E.A., Martinez J.E., Horenstein M.G. et al. Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. Am J Med Genet A 2005;137(1):1–8. PMID: 16007634. DOI: 10.1002/ajmg.a.30834.
13. Prajapat M., Kothiwala S.K., Sharma M., Kuldeep C.M. Cardiofaciocutaneous syndrome: classical presentation of a rare genodermatoses. Indian Dermatol Online J 2016;7(5):396–8. PMID: 27730037. DOI: 10.4103/2229-5178.190508.
14. Armour C.M., Allanson J.E. Further delineation of cardiofaciocutaneous syndrome: clinical features of 38 individuals with proven mutations. J Med Genet 2008;45(4):249–54. PMID: 18039946. DOI:10.1136/jmg.2007.054460.
15. Pierpont M.E.M., Magoulas P.L., Adi S. et al. Cardiofaciocutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2014;134(4):e1149–62. PMID: 25180280. DOI: 10.1542/peds.2013-3189.
16. Siegel D.H., McKenzie J., Frieden I.J., Rauen K.A. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome Br J Dermatol 2011;164(3):521–9. PMID: 21062266. DOI: 10.1111/j.1365-2133.2010.10122.x.
17. Allanson J.E., Annerén G., Aoki Y. et al. Cardiofaciocutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet 2011;157C(2):129–35. PMID: 21495173. DOI: 10.1002/ajmg.c.30295.
18. Gross-Tsur V., Gross-Kieselstein E., Amir N. Cardiofaciocutaneous syndrome: neurological manifestations. Clin Genet 1990;38(5):382–6. PMID: 2149308. DOI: 10.1111/j.1399-0004.1990.tb03600.x.
19. Reinker K.A., Stevenson D.A., Tsung A. Orthopedic conditions in RAS/MAPK related disorders. J Pediatr Orthop 2011;31(5):599–605. PMID: 21654472. DOI: 10.1097/BPO.0b013e318220396e.
20. Stevenson D.A., Yang F.C. The musculoskeletal phenotype of the RASopathies. Am J Med Genet C Semin Med Genet 2011;157C(2):90–103. PMID: 21495174. DOI: 10.1002/ajmg.c.30296.
Review
For citations:
Umnov V.V., Nikitina N.V., Khodorovskaya A.M., Barlova O.V. Cardiofaciocutaneus syndrome: literature review and case report. Neuromuscular Diseases. 2018;8(4):49-53. (In Russ.) https://doi.org/10.17650/2222-8721-2018-8-4-49-53
Views:
1822
Email this article 