2017, Number 2
Saethre-Chotzen of syndrome
Language: Spanish
References: 10
Page: 271-276
PDF size: 473.02 Kb.
ABSTRACT
The Saethre-Chotzen syndrome is among the hereditary craniosynostosis that is characterized by an early unilateral or bilateral synostosis of the coronal sutures, facial asymmetry, ptosis and sometimes strabismus. The case of a 10-year-old female patient is presented with craniostenosisprovoking skull asymmetry, plagiocephaly and facial asymmetry with left palpebral ptosis. Because of the frequency of craniosynostosis, the early diagnosis is necessary to perform a timely intervention for an accurate treatment and multidisciplinary follow-up, in order to complete an adequate genetic counseling to these families.REFERENCES
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Altiner Ş, Karabulut HG, Yararbaş K, Tükün A, Collet C, Kocaay P, et al. A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome. Clin Dysmorphol. [Internet] 2016 Nov 18. [Citado 3 de Ene 2017]. Disponible en: http://journals.lww.com/clindysmorphol/Citation/publishahead/A_novel_TWIST1_gene_mutation_in_a_patient_with.99627.aspx
Tahiri Y, Bastidas N, McDonald-McGinn DM, Birgfeld C, Zackai EH, Taylor J, et al. New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. J Craniofac Surg. [Internet] 2015 Jul [Citado 3 de Ene 2017]; 26(5): [Aprox. 3p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/26114524
Thakur AR, Naikmasur VG. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. Indian J Dent. [Internet] 2014 Apr [Citado 3 de Ene 2017]; 5(2): [Aprox. 3p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184321/
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Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, et al. Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism. Am J Med Genet A. [Internet] 2013 Aug [Citado 3 de Ene 2017]; 161A(8): [Aprox. 5p.]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36027/full