Isolated auricle-facial spectrum. Presentation of a patient

Authors

  • Vivian Susana Guerra Batista Centro Municipal de Genética, Mayarí, Holguín
  • Gisell Perez Breff Centro Municipal de Genética, Mayarí, Holguín
  • Elayne Esther Santana Hernández Centro Provincial de Genética Médica, Holguín
  • Víctor Jesús Tamayo Chang Centro Provincial de Genética Médica, Holguín

Keywords:

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.

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Author Biographies

Vivian Susana Guerra Batista, Centro Municipal de Genética, Mayarí, Holguín

Especialista de I y II Grado en Medicina General Integral. Máster en Asesoramiento Genético. Profesora Asistente.

Gisell Perez Breff, Centro Municipal de Genética, Mayarí, Holguín

Especialista de I Grado en Medicina General Integral y en Genética Clínica. Máster en Asesoramiento Genético. Profesora Instructora.

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica, Holguín

Especialista de I y II Grado en Medicina General Integral y en Genética Clínica. Máster en Atención Integral al Niño. Profesora Auxiliar. Investigadora Agregada.

Víctor Jesús Tamayo Chang, Centro Provincial de Genética Médica, Holguín

Especialista de I y II Grado en Genética Clínica. Máster en Atención Integral al Niño. Profesor Auxiliar. Investigador Agregado.

References

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How to Cite

1.
Guerra Batista VS, Perez Breff G, Santana Hernández EE, Tamayo Chang VJ. Isolated auricle-facial spectrum. Presentation of a patient. Acta Méd Centro [Internet]. 2017 Apr. 3 [cited 2025 Jun. 28];11(2):53-7. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/815

Issue

Vol. 11 No. 2 (2017): April-June

Section

Case Reports

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