Cadena LIM, Rodríguez BR, Rodríguez BI

Language: Spanish
References: 15
Page: 138-142
PDF size: 176.96 Kb.

ABSTRACT

Introduction: Goldenhar syndrome (also known as oculo-auriculo-vertebral dysplasia) is a broad spectrum of congenital abnormalities that involve structures that originate from the first and second branchial arch. Clinical case: We report the case of a newborn male with bilateral anotia, left facial paralysis, and hemivertebrae. Conclusions: Goldenhar syndrome varies from isolated microtia with or without mandibular hypoplasia to a more complex phenotype with skeletal, heart, renal, pulmonary and central nervous system manifestations. Persons affected can suffer psychological problems caused by this difficult to conceal physical defect as well as from functional alterations that require specialized and multidisciplinary treatment. This case is a unique presentation of this syndrome because the presence of bilateral anotia and symmetrical internal ear malformations is rare.

REFERENCES

1. Berker N, Acaroglu G, Soycan E. Goldenhar’s Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy, Yonsei Med J, 2004; 45 (1): 157-160.

2. Lima MdeD, Marques YM, Alves SdeM Jr, Ortega KL, Soares MM, Magalhães MH. Distraction osteogenesis in Goldenhar syndrome: case report and 8-year follow-up, Med Oral Patol Oral Cir Bucal, 2007; 12 (7): E528-31.

3. Wang RY, Earl DL, Ruder RO, Graham JM. Syndromic ear anomalies and renal ultrasounds, Pediatrics, 2001; 108 (2): E32.

4. Thiel CT, Rosanowskib F, Kohlhase J, Reis A, Rauch A. Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia, Clin Dysmorphol, 2005; 14 (2): 67-71.

5. Adeoye AO. Goldenhar’s syndrome: case report, East Afr Med J, 2002; 79 (9): 502-504.

6. McAlister JC, Olver JM, Hatter T. Severe bilateral ocular features in Goldenhar’s syndrome, J Pediatr Ophthalmol Strabismus, 2001; 38 (1): 44-46.

7. Musarella MA, Young ID. A patient with median cleft face anomaly and bilateral Goldenhar anomaly, Am J Med Genet Suppl, 1986; 2: 135-141.

8. Thomas P. Goldenhar syndrome and hemifacial microsomia: observations on three patients, Eur J Pediatr, 1980; 133 (3): 287-292.

9. Verona LL, Damian NG, Pavarina LP, Ferreira C, Melo DG. Monozygotic twins discordante for Goldenhar syndrome, J Pediatr (Rio J), 2006; 82 (1): 75-78.

10. More V, Ahuja SR, Kulkarni HV, Kulkarni MV. Bilateral anotia with congenital hypothyroidism, Indian J Pediatr, 2004; 71 (4): 369-370.

11. Bartel-Friedric S, Wulke C. Classification and diagnosis of ear malformations, GMS Curr Top Otorhinolaryngol Head Neck Surg, 2007; 6: Doc05. Published online 2008 Mar 14.

12. Nazer J, Lay-Son G, Cifuentes L. Prevalencia de nacimiento de microtia-anotia. Maternidad del Hospital Clínico de la Universidad de Chile, período 1983-2005, Rev Med Chile, 2006; 134: 1295-1301.

13. De La Barca-Lleonart M, Paz-Sarduy A, Ocaña-Gil MA, Atienza-Lois L. Displasia óculo-aurículo-vertebral o síndrome de Goldenhar. Estudio multidisciplinario de un caso clinic, Rev Cubana Oftalmol, 2001; 14 (1): 42-46.

14. Palacios A, Carvalho AP, Castro R, Reis A. Síndrome de Goldenhar asociado a válvulas de la uretra posterior, Arch Esp Urol, 2007; 60 (1): 69-71

15. Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature, Eur J Hum Genet, 2007; 15 (4): 411-421.