2017, Number 2
Espectro aurículo-facial aislado. Presentación de una paciente
Language: Spanish
References: 10
Page: 53-57
PDF size: 139.64 Kb.
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
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
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
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