148
Views
2
CrossRef citations to date
0
Altmetric
Case Report

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study

, , , ORCID Icon, ORCID Icon, , & show all
Pages 389-398 | Published online: 06 Sep 2021

References

  • Chen J, Che L, Xu C, et al. Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy. Gene. 2020;733:144369. doi:10.1016/j.gene.2020.144369
  • Dentici ML, Sarkozy A, Pantaleoni F, et al. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet. 2009;17(6):733–740. doi:10.1038/ejhg.2008.256
  • Nava C, Hanna N, Michot C, et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signaling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007;44(12):763–771. doi:10.1136/jmg.2007.050450
  • Emery CM, Vijayendran KG, Zipser MC, et al. MEK1 mutations confer resistance to MEK and B-RAF inhibition. Proc Natl Acad Sci U S A. 2009;106(48):20411–20416. doi:10.1073/pnas.0905833106
  • Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007;143A(8):799–807. doi:10.1002/ajmg.a.31658
  • Kavamura MI, Peres CA, Alchorne MM, Brunoni D. CFC index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet. 2002;112(1):12–16. doi:10.1002/ajmg.10681
  • Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement – the CFC syndrome. Am J Med Genet. 1986;25(3):413–427. doi:10.1002/ajmg.1320250303
  • Seth S, Biswas T, Biswas B, Roy A, Datta AK. Cardiofaciocutaneous syndrome: case report of a rare disorder. J Clin Diagn Res. 2016;10(11):SD01–SD02.
  • Pierpont MEM, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014;134(4):e1149‐e1162. doi:10.1542/peds.2013-3189
  • Ciara E, Pelc M, Jurkiewicz D, et al. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene. Eur J Med Genet. 2015;58(1):14‐20. doi:10.1016/j.ejmg.2014.11.002
  • Rauen KA. Cardiofaciocutaneous syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews®. Seattle: University of Washington, Seattle; 1993.
  • Kochinke K, Zweier C, Nijhof B, et al. Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am J Hum Genet. 2016;98(1):149–164. doi:10.1016/j.ajhg.2015.11.024
  • Kong EL, Fowler JB. Rinne test. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021. PMID: 28613725.
  • Kurkowski M, Woźniak T. Badanie sprawności motorycznej narządów mowy [Examination of Motor Efficiency of Speech Organs]. Zakład Logopedii i Językoznawstwa Stosowanego, UMCS Lublin. 2016.
  • Michalak-Widera I. Logopedyczny Test dla Dzieci i Młodzieży [Logopedic Test for Children and Young Adults]. Katowice: Wydawca Unikat 2; 2009.
  • Styczek I. Badanie i kształtowanie słuchu fonematycznego [Testing and Shaping Phonemic Hearing]. Warszawa: Wydawnictwo Szkolne i Pedagogiczne; 1982.
  • Auyeung B, Baron-Cohen S, Wheelwright S, Allison C. The Autism-spectrum quotient: children‘s version (aq-child), autism research centre, University of Cambridge, UK. J Autism Dev Disord. 2008;38(7):1230–1240. ( Polish version: Pisula E, Rynkiewicz A, Łucka I. 2010). doi:10.1007/s10803-007-0504-z
  • Scott F, Baron-Cohen Bolton P, Brayne C, Brayne C. CAST autism research centre, University of Cambridge, UK. Autism. 2002;6(1):9–31. ( Polish version: Pisula E, Rynkiewicz A. 2012). doi:10.1177/1362361302006001003
  • Goodwin AF, Oberoi S, Landan M, et al. Craniofacial and dental development in Costello syndrome. Am J Med Genet A. 2014;164A(6):1425–1430. doi:10.1002/ajmg.a.36475
  • Gripp KW, Lin AE, Nicholson L, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A. 2007;143A(13):1472–1480. doi:10.1002/ajmg.a.31815
  • De Schrijver L, Topsakal V, Wojciechowski M, Van de Heyning P, Boudewyns A. Prevalence and etiology of sensorineural hearing loss in children with down syndrome: a Cross-Sectional Study. Int J Pediatr Otorhinolaryngol. 2019;116:168–172. doi:10.1016/j.ijporl.2018.10.048
  • Shankar SP, Young T, Burner E, et al. Visual and auditory features in cardio-facio-cutaneous syndrome. J Investig Med. 2009;7:115.
  • Bonnard Å, Bark R, Hederstierna C. Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome. Am J Med Genet C Semin Med Genet. 2019;181(1):18–24. doi:10.1002/ajmg.c.31673
  • Mey K, Muhamad AA, Tranebjaerg L, et al. Association of SLC26A4 mutations, morphology, and hearing in Pendred syndrome and NSEVA. Laryngoscope. 2019;129(11):2574–2579. doi:10.1002/lary.27319
  • Kreicher KL, Weir FW, Nguyen SA, Meyer TA. Characteristics and progression of hearing loss in children with down syndrome. J Pediatr. 2018;193:27–33.e2. doi:10.1016/j.jpeds.2017.09.053
  • Miguel HC, Carneiro CG, Tabith A Jr, Zechi-Ceide RM, Genaro KF. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. Am J Med Genet A. 2012;158A(8):1967‐1970. doi:10.1002/ajmg.a.35421
  • Paolantonio EG, Ludovici N, Saccomanno S, La Torre G, Grippaudo C. Association between oral habits, mouth breathing and malocclusion in Italian preschoolers. Eur J Paediatr Dent. 2019;20(3):204–208.
  • Harari D, Redlich M, Miri S, Hamud T, Gross M. The effect of mouth breathing versus nasal breathing on dentofacial and craniofacial development in orthodontic patients. Laryngoscope. 2010;120(10):2089–2093. doi:10.1002/lary.20991
  • Saitoh I, Inada E, Kaihara Y, et al. An exploratory study of the factors related to mouth breathing syndrome in primary school children. Arch Oral Biol. 2018;92:57–61. doi:10.1016/j.archoralbio.2018.03.012
  • Bonilha HS, O’Shields M, Gerlach TT, Deliyski DD. Arytenoid adduction asymmetries in persons with and without voice disorders. Logoped Phoniatr Vocol. 2009;34(3):128‐134. doi:10.1080/14015430903150210
  • Adviento B, Corbin IL, Widjaja F, et al. Autism traits in the RASopathies. J Med Genet. 2014;51(1):10–20. doi:10.1136/jmedgenet-2013-101951
  • Garg S, Brooks A, Burns A, et al. Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK Pathway. Dev Med Child Neurol. 2017;59(5):544–549. doi:10.1111/dmcn.13394