Main Article Content
Abstract
Résumé:Le syndrome de Goldenhar, une des présentations cliniques des dysplasies oculo-auriculo-vertébrales, est une anomalie congénitale rare. Nous présentons l'observation d'un garçon de 2 ans qui présentait le tableau clinique typique. La prise en charge multidisciplinaire notamment ophtalmologique, ORL , plasticienne et pédiatrique n'a pas pu etre réalisée. L'ignorance et le plateau technique limité sont des freins à cette prise en charge dans notre contexte.
Abstract:Goldenhar syndrom, a clinical presentation of the oculo-auriculo-vertebral spectrum is a rare congenital anomaly.We report the case of a 2 years old boy who presented the typical clinical picture. The multidisciplinary approach including ophtalmologist, ENT, plaastic surgeon and pediatrician could not be performed. The ignorance and limited technical facilities are obstacles to this support in our context.
Article Details
References
- REFERENCES BIBLIOGRAPHIQUES
- Tasse C, Böhringer S, Fischer S, Lüdecke H-J, Albrecht B, Horn D, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. oct 2005;48(4):397‑411.
- Mohandessan MM, Roman P. Neuroparalytic keratitis in Goldenhar-Gorlin syndrome. Am J Ophthalmol. janv 1978;85(1):111‑113.
- Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO, Reynolds JF. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet. 1 févr 1987;26(2):361‑375.
- Morrison J, Mulholland HC, Craig BG, Nevin NC. Cardiovascular abnormalities in the oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome). Am J Med Genet. 1 nov 1992;44(4):425‑428.
- Adeoye AO. Goldenhar ’s syndrome: case report. East Afr Med J. 4 août 2004;79(9):502‑504.
- Baum JL, Feingold M. Ocular aspects of Goldenhar syndrom. Amer J Ophtalmol. 1973;75:250‑7.
- Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet A. 1 oct 2008;146A(19):2490‑2494.
- Digilio MC, McDonald‐McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, et al. Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A. 1 déc 2009;149A(12):2860‑2864.
- Feingold M, Baum J. GOldenhar’s syndrome. Am J Dis Child. 1 févr 1978;132(2):136‑138.
- Furtado LV, Putnam AR, Viskochil DH, Lowichik A, Erickson LK, Dries DC, et al. Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly. Fetal Pediatr Pathol. 7 nov 2011;30(6):397‑404.
- Greenwood RD, Rosenthal A, Sommer A, Wolff G, Craenen J. Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J Pediatr. déc 1974;85(6):816‑818.
- Warburg M. Update of Sporadic Microphthalmos and Coloboma Non-Inherited Anomalies Dedicated to Barrie Jay. Ophthalmic Genet. 1 janv 1992;13(2):111‑122.
- Skarżyński H, Porowski M, Podskarbi-Fayette R. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). Int J Pediatr Otorhinolaryngol. juill 2009;73(7):915‑921.
- Suda N, Watanabe M, Ohyama K. A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive management. World J Orthod. déc 2005;7(3):299‑304.
References
REFERENCES BIBLIOGRAPHIQUES
Tasse C, Böhringer S, Fischer S, Lüdecke H-J, Albrecht B, Horn D, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. oct 2005;48(4):397‑411.
Mohandessan MM, Roman P. Neuroparalytic keratitis in Goldenhar-Gorlin syndrome. Am J Ophthalmol. janv 1978;85(1):111‑113.
Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO, Reynolds JF. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet. 1 févr 1987;26(2):361‑375.
Morrison J, Mulholland HC, Craig BG, Nevin NC. Cardiovascular abnormalities in the oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome). Am J Med Genet. 1 nov 1992;44(4):425‑428.
Adeoye AO. Goldenhar ’s syndrome: case report. East Afr Med J. 4 août 2004;79(9):502‑504.
Baum JL, Feingold M. Ocular aspects of Goldenhar syndrom. Amer J Ophtalmol. 1973;75:250‑7.
Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet A. 1 oct 2008;146A(19):2490‑2494.
Digilio MC, McDonald‐McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, et al. Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A. 1 déc 2009;149A(12):2860‑2864.
Feingold M, Baum J. GOldenhar’s syndrome. Am J Dis Child. 1 févr 1978;132(2):136‑138.
Furtado LV, Putnam AR, Viskochil DH, Lowichik A, Erickson LK, Dries DC, et al. Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly. Fetal Pediatr Pathol. 7 nov 2011;30(6):397‑404.
Greenwood RD, Rosenthal A, Sommer A, Wolff G, Craenen J. Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J Pediatr. déc 1974;85(6):816‑818.
Warburg M. Update of Sporadic Microphthalmos and Coloboma Non-Inherited Anomalies Dedicated to Barrie Jay. Ophthalmic Genet. 1 janv 1992;13(2):111‑122.
Skarżyński H, Porowski M, Podskarbi-Fayette R. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). Int J Pediatr Otorhinolaryngol. juill 2009;73(7):915‑921.
Suda N, Watanabe M, Ohyama K. A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive management. World J Orthod. déc 2005;7(3):299‑304.