Macroglossia: the importance of genetic testing for prognosis

Author:

Pinho Joana,Vieira Beatriz,Lopes Vilma,Costa Conceicao

Publisher

Pediatric Oncall Pvt Ltd

Subject

General Medicine

Reference8 articles.

1. Nunez-Martinez PM, Garcia-Delgado C, Moran-Barroso VF, Jasso-Gutierrez L. Macroglosia congenita: caracteristicas clinicas y estrategias de tratamiento en la edad pediatrica [Congenital macroglossia: clinical features and therapeutic strategies in paediatric patients]. Bol Med Hosp Infant Mex. 2016 May-Jun;73(3):212-216. Spanish. doi: 10.1016/j.bmhimx.2016.03.003. Epub 2016 Jun 4. PMID: 29421209.

2. Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A,et al. Prevalence of Beckwith-Wiedemann syndrome in North West of Italy. Am J Med Genet A. 2013 Oct;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5. PMID: 23918458.

3. Wang KH, Kupa J, Duffy KA, Kalish JM. Diagnosis and Management of Beckwith-Wiedemann Syndrome. Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. PMID: 32039119; PMCID: PMC6990127.

4. Cortessis VK, Azadian M, Buxbaum J, Sanogo F, Song AY, Sriprasert I, et al. Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. J Assist Reprod Genet. 2018 Jun;35(6):943-952. doi: 10.1007/s10815-018-1173-x. Epub 2018 Apr 25. PMID: 29696471; PMCID: PMC6030010.

5. Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. PMID: 29377879; PMCID: PMC6022848.

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