Goldenhar syndrome, a range of clinical possibilities

Main Article Content

Gloria Valentina Mosquera Sepulveda
Mario Nicolas Ayala Lozano
Carlos Orlando Amaya Jinete
Lorena García Agudelo.
José Luis Cruz Urrego
Julio César Velasco Castro.

Abstract

Background: Goldenhar syndrome is a little-known clinical entity, that causes malformations mainly in the face, eyes, spine, and ears. It most frequently affects males; 85 % of the cases involve the hemiface, with the right side being the most common. Case report: Male newborn, product of first gestation, 19-year-old mother, without pathologic history and adequate prenatal control, at birth evidenced multiple craniofacial malformations described as a scleral dermoid cyst in the right eye involving the lower temporal and upper corneal regions and a coloboma, an auricular pavilion with right microtia, and in the ipsilateral hemiface a slightly elevated epidermal lesion, irregular, with defined borders, with malar, zygomatic, and preauricular involvement with micropapules, in addition to a dermoid lesion suggestive of skin aplasia. For all the anomalies described, he was diagnosed with Goldenhar syndrome. Conclusions: The pathophysiologic origin is not well defined; however, it has been described as being caused by an alteration of the structures derived from the first and second brachial arches, influenced by little-known external factors. In this case, although the pregnant woman attended all prenatal controls, this congenital alteration was only evidenced at the time of delivery, so we emphasize the expertise of clinicians to know the rare anomalies and thus make a timely diagnosis and an effective approach with a multidisciplinary team as they condition a better prognosis and quality of life in patients.

Downloads

Download data is not yet available.

Article Details

How to Cite
Mosquera Sepulveda, G. V., Ayala Lozano, M. N., Amaya Jinete, C. O., García Agudelo., L., Cruz Urrego, J. L., & Velasco Castro. , J. C. (2023). Goldenhar syndrome, a range of clinical possibilities. Pediatría, 56(2), e424. https://doi.org/10.14295/rp.v56i2.424
Section
Case report
Author Biography

Julio César Velasco Castro. , MD. Hospital Regional de la Orinoquia. Yopal, Colombia.

Medico Departamento de investigación, Hospital Regional de la Orinoquía, Yopal, Colombia

References

Agredo FE, Cuello G, Blanco P. Síndrome de Golden Har. Reporte de un caso. Acta otorrinolaringol cir cabeza cuello [Internet]. 31 de agosto de 2018;37(4):215-9. Disponible en: https://revista.acorl.org.co/index.php/acorl/article/view/302. DOI: https://doi.org/10.37076/acorl.v37i4.302

Guevara-Valmaña OI, Nahas-Combina L, Andrade-Delgado L, Apellaniz-Campo AG, Leyva-Sotelo LM, Gaspar-Daniel Á. Goldenhar syndrome: Surgical management protocol in a reference center. Cir y Cir (English Ed. 2019;87(5):516–27. DOI: https://doi.org/10.24875/CIRU.19000654

Torres Salinas C. Síndrome de Goldenhar: Manifestaciones clínicas y revisión de literatura. Revista pediátrica de Panamá- 2020, Marzo, 49(1):17-20. doi: 10.37980/im.jour- nal.rspp2019.1591. DOI: https://doi.org/10.37980/im.journal.rspp.20201591

González L, Ramos A, Lozano S, Salazar R, López C. Síndrome de Goldenhar: a propósito de un caso. Rev Pediatr Aten Primaria. 2016 Mar; 18(69): 49-53.

Zenteno-Salazar E, Sifuentes-Vela C, Contreras-Capetillo S, López-Cabrera M, Núñez-Enríquez JC. Multidisciplinary management with neuromuscular electrical stimulation therapy in a Goldenhar syndrome patient who presented swallowing disorder and failure to thrive. Bol Med Hosp Infant Mex. 2021;78(4):362-369. Spanish. doi: 10.24875/BMHIM.20000222. DOI: https://doi.org/10.24875/BMHIM.20000222

Guerrero-Domínguez R, López-Herrera-Rodríguez D, Benítez-Linero I, Ontanilla A. Manejo anestésico para cirurgia de atresia de esôfago em um recém-nascido com síndrome de Goldenhar [Anesthetic management for surgery of esophagus atresia in a newborn with Goldenhar's syndrome]. Rev Bras Anestesiol. 2015 Jul-Aug;65(4):298-301. Portuguese. doi: 10.1016/j.bjan.2013.07.011. DOI: https://doi.org/10.1016/j.bjan.2013.07.011

Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S. Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3):359-70.

Jayaprakasan SK, Waheed MD, Batool S, Pimentel Campillo J, Nageye ME, Holder SS. Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay. Cureus. 2023 Mar 16;15(3):e36225. doi: 10.7759/cureus.36225. DOI: https://doi.org/10.7759/cureus.36225

El Bouaychi A, Ez-Zahraoui M, Boutimzine N, Cherkaoui O. Syndrome de Goldenhar: à propos d’un cas [Goldenhar syndrome: A case report]. J Fr Ophtalmol. 2020 Jan;43(1):90-92. French. doi: 10.1016/j.jfo.2019.07.006. DOI: https://doi.org/10.1016/j.jfo.2019.07.006

Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Doray B, Khoshnood B, Klungsoyr K, McDonnell B, Pierini A, Rankin J, Rissmann A, Rounding C, Queisser-Luft A, Scarano G, Tucker D. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet. 2014 Aug;22(8):1026-33. doi: 10.1038/ejhg.2013.287. DOI: https://doi.org/10.1038/ejhg.2013.287

Feingold M, Baum J. Goldenhar´s Syndrome. Am J Dis Child 1978;132(2):136-138.doi:10.1001/archpedi.1978.0212027 0034006. DOI: https://doi.org/10.1001/archpedi.1978.02120270034006

Tam MW, Boyle N. Goldenhar syndrome associated with lacrimal system agenesis: A case report. Am J Ophthalmol Case Rep. 2022 Dec 6;29:101766. doi: 10.1016/j.ajoc.2022.101766. DOI: https://doi.org/10.1016/j.ajoc.2022.101766

Liao EN, Chan DK. Congenital aural atresia and first branchial cleft anomalies: Cholesteatoma and surgical management. Laryngoscope Investig Otolaryngol. 2022 Apr 20;7(3):863-869. doi: 10.1002/lio2.793. DOI: https://doi.org/10.1002/lio2.793

Malta PG, Vilani DSRA, de Miranda CF, Fouad IL, Castro CC, Borgatti MÉ. Goldenhar syndrome: the importance of an ophthalmological approach. Rom J Ophthalmol. 2020 Oct-Dec;64(4):444-448. doi: 10.22336/rjo.2020.68. DOI: https://doi.org/10.22336/rjo.2020.68

Similar Articles

<< < 7 8 9 10 11 12 

You may also start an advanced similarity search for this article.