medigraphic.com
SPANISH

Acta Médica del Centro

ISSN 1995-9494 (Electronic)
Revista del Hospital Clínico Quirúrgico "Arnaldo Milián Castro"
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2017, Number 2

<< Back Next >>

Acta Med Cent 2017; 11 (2)

Espectro aurículo-facial aislado. Presentación de una paciente

Guerra BVS, Perez BG, Santana HEE, Tamayo CVJ
Full text How to cite this article

Language: Spanish
References: 10
Page: 53-57
PDF size: 139.64 Kb.


Key words:

Goldenhar syndrome, congenital microtia.

ABSTRACT

The isolated autricle-facial spectrum is a defect that can present in a unique way or as a complex and heterogeneous disease; from the dysmorphological point of view it is classified as a disruption. These defects, which usually occur in the way of the first brachial arch, have the minimum form, which are the pre-auricular appendages, and the most severe, presenting macrostomia and epibulbar dermoid, which is known as Goldenhar syndrome and may be associated with other malformations. It is presented a girl with a microtía grade IV, light facial asymmetry that was presented in isolation, with no apparent cause that caused this alteration. The interrogation and the physical examination are considered of great value to arrive at the clinical diagnosis and to be able to realize an adequate genetic advice.


REFERENCES

  1. Murialdo G, Piazzi A, Badolati G, Calcagno E, Berio A. Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy. Pediatr Med Chir [Internet]. 2016 [citado 7 Oct 2016]38(2):121. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/27345603

  2. Wang P, Fan Y, Chen X. The etiology research progress of oculo-auriculo-vertebral spectrum. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi [Internet]. 2015 [citado 7 Oct 2016];29(24):2184-8. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/27093828

  3. Bartel-Friedrich S. Congenital auricular malformations: description of anomalies and syndromes. Facial Plast Surg [Internet]. 2015 [citado 7 Oct 2016];31(6):567-80. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/26667631

  4. Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, et al. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients. Eur J Med Genet [Internet]. 2015 [citado 7 Oct 2016];58(9):455-65. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/26206081

  5. Sleifer P, Gorsky Nde S, Goetze TB, Rosa RF, Zen PR. Audiological findings in patients with oculo-auriculo-vertebral spectrum. Int Arch Otorhinolaryngol [Internet]. 2015 [citado 7 Oct 2016];19(1):5-9. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/25992144

  6. Guida V, Sinibaldi L, Pagnoni M, Bernardini L, Loddo S, Margiotti K, et al. A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum. Am J Med Genet A [Internet]. 2015 [citado 7 Oct 2016];167A(4):797-801. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/25735547

  7. Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet [Internet]. 2014 [citado 7 Oct 2016];51(10):635-45. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/25118188

  8. Colovati ME, Bragagnolo S, Guilherme RS, Dantas AG, Soares MF, Kim CA, et al. Atypical 581-kb 22q11.21 deletion in a patient with oculo-auriculo-vertebral spectrum phenotype. Cytogenet Genome Res [Internet]. 2015 [citado 7 Oct 2016];147(2-3):130-4. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/26919065

  9. Manara R, Schifano G, Brotto D, Mardari R, Ghiselli S, Gerunda A, et al. Facial asymmetry quantitative evaluation in oculoauriculovertebral spectrum. Clin Oral Investig [Internet]. 2016 [citado 7 Oct 2016];20(2):219-25. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/26578120

  10. 10.El Mansoury J, Mbekeani JN. Late recognition of a case of oculo-auriculo-vertebral spectrum. Optom Vis Sci [Internet]. 2016 [citado 7 Oct 2016];93(11):1449-1453. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/27755235




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Acta Med Cent. 2017;11