Abstract
Purpose
To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS).
Methods
Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files. An ENT, pediatrics, cardiology, and orthopedics consultation was sought for all GS patients before taking up for any ophthalmic surgical procedure. The anatomical (ocular surface and eyelid) and functional {vision and extraocular movements (EOM)} factors were exclusively studied. We ensured a minimum postoperative follow-up of 12 months, and our data were compared with the major studies featuring ‘ophthalmic features’ of GS.
Results
Totally 30 children (females = 18, 60%) were included with a median presenting age of 48 months. Twenty-seven (90%) had unilateral ophthalmic involvement with major features being upper eyelid coloboma (n = 25, 75.76%), lipodermoid (n = 18, 54.55%), and limbal dermoid (n = 10, 30.3%). Diminution of visual acuity was recorded in 22 (73.3%), while five (16.7%) had limitation of EOM. Systemically, the prominent features included hemifacial hypotrophy (100%), auricular anomalies (80%), cardiac anomalies (10%), and scoliosis (6.67%). The eyelid colobomas were repaired with the direct closure ± cantholysis technique or using a Tenzel’s flap. All children had satisfactory anatomical and functional outcomes after ophthalmic surgical interventions without any significant complications.
Conclusion
The tailored ophthalmic surgical intervention(s) provides satisfactory restoration of anatomy and functionality of the eye. These children need specific multi-discipline consultations for the holistic management and complete care.
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References
Goldenhar M (1952) Associations malformatives de l’oeil et l’oreille, en particulier le syndrome dermoide épibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1:243–282
Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E (1963) Oculoauriculovertebral dysplasia. J Pediatr 63:991–999
Cohen MM Jr, Rollnick BR, Kaye CI (1989) Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 26:276–286
Gorlin RJ, Cohen MM, Levin LS (1990) Syndromes of the head and neck. Oxford University Press, New York, pp 707–708
Baum JL, Feingold M (1973) Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol 75:250–257
Rao VA, Rao S, Lamba PA (1982) Goldenhar’s syndrome (an analysis of 10 cases and aetiological considerations). Indian J Ophthalmol 30:147–149
Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R (1985) Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol 100:555–559
Mansour AM, Barber JC, Reinecke RD, Wang FM (1989) Ocular choristomas. Surv Ophthalmol 33:339–358
Khong JJ, Hardy TG, McNab AA (2013) Prevalence of Oculo-auriculo-vertebral Spectrum in Dermolipoma. Ophthalmology 120:1529–1532
Tawfik HA, Abdulhafez MH, Fouad YA (2015) Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. Ophthal Plast Reconstr Surg 31:1–12
Schmitzer S, Burcel M, Dăscălescu D, Popteanu IC (2018) Goldenhar Syndrome -ophthalmologist’s perspective. Rom J Ophthalmol 62:96–104
Grover AK, Chaudhuri Z, Malik S, Bageja S, Menon V (2009) Congenital eyelid colobomas in 51 patients. J Pediatr Ophthalmol Strabismus 46:151–159
Collin JR (1986) Congenital upper lid coloboma. Aust N Z J Ophthalmol 14:313–317
Watts P, Michaeli-Cohen A, Abdolell M, Rootman D (2002) Outcome of lamellar keratoplasty for limbal dermoids in children. J AAPOS 6:209–215
Pirouzian A, Holz H, Merrill K, Sudesh R, Karlen K (2012) Surgical management of pediatric limbal dermoids with sutureless amniotic membrane transplantation and augmentation. J Pediatr Ophthalmol Strabismus 49:114–149
Hasham F, van Helmond N, Sidlow R (2017) Anaesthesia and orphan disease: difficult ventilation following intubation in Goldenhar syndrome. Eur J Anaesthesiol 34:181–183
Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M (2014) Treatment strategy in Goldenhar syndrome. J Craniofac Surg 25:177–183
Cohen N, Cohen E, Gaiero A, Zecca S, Fichera G, Baldi F, Giordanetto JF, Mercier JM, Cohen A (2017) Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. Am J Med Genet A 173:1208–1218
Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D (2007) A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 16:1–7
Farra C, Yunis K, Yazbeck N, Majdalani M, Charafeddine L, Wakim R, Awwad J (2011) A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder? Appl Clin Genet 4:93–97
Soltan HC, Holmes LB (1986) Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr 108:112–114
Hartsfield JK (2007) Review of etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 10:121–128
Strömland K, Miller M, Sjögreen L, Johansson M, Joelsson BM, Billstedt E, Gillberg C, Danielsson S, Jacobsson C, Andersson-Norinder J, Granström G (2007) Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A 143A: 1317–1325
Chaudhuri Z, Grover AK, Bageja S, Jha SN, Mohan S (2007) Morning Glory Anomaly With Bilateral Choroidal Colobomas in a Patient With Goldenhar’s Syndrome. J Pediatr Ophthalmol Strabismus 44:187–189
Margolis S, Aleksic S, Charles N, McCarthy J, Greco A, Budzilovich G (1984) Retinal and optic nerve findings in Goldenhar-Gorlin syndrome. Ophthalmology 91:1327–1333
Bayraktar S, Bayraktar ST, Ataoglu E, Ayaz A, Elevli M (2005) Goldenhar’s syndrome associated with multiple congenital anomalies. J Trop Paediatr 51:377–379
Pierpont ME, Moller JH, Gorlin RJ, Edwards JE (1982) Congenital cardiac, pulmonary and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 2:297–302
Bowen DI, Collum LM, Rees DO (1971) Clinical aspects of oculo-auriculo-vertebral dysplasia. Br J Ophthalmol 55:145–154
Bhallil S, Benatiya I, El Abdouni O, Mahjoubi B (2010) Hicham T (2010) Goldenhar syndrome: ocular features. Bull Soc Belge Ophtalmol 316:17–19
Elsas FJ, Green WR (1975) Epibulbar tumors in childhood. Am J Ophthalmol 79:1001–1007
Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D (2005) Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 48:397–411
Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO (1987) Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 26:361–375
Engiz O, Balci S, Unsal M, Ozer S, Ozug KK, Aktas D (2007) 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns 18:277–288
Martinelli P, Maruotti G, Agangi A, Mazzarelli LL, Bifulco G, Paladini D (2004) Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound Obstet Gynecol 24:199–201
Abdel Razek AA, Elkhamary S, Al-Mesfer S, Alkatan HM (2012) Correlation of apparent diffusion coefficient at 3T with prognostic parameters of retinoblastoma. AJNR Am J Neuroradiol 33:944–948
Razek AA, Elkhamary S (2011) MRI of retinoblastoma. Br J Radiol 84:775–784
Kaur M, Singh S, Singh M (2016) Congenital bilateral eyelid imbrication in a neonate: a rare case. J Clin Neonatol 5:137–139
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Singh, M., Kaur, M., Grewal, A.M. et al. Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome. Int Ophthalmol 40, 667–675 (2020). https://doi.org/10.1007/s10792-019-01227-0
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DOI: https://doi.org/10.1007/s10792-019-01227-0