Literature DB >> 31760545

Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome.

Manpreet Singh1, Manpreet Kaur2, Aditi Mehta Grewal2, Sonam Yangzes2, Deepti Yadav2, Zoramthara Zadeng2, Pankaj Gupta2.   

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.

Entities:  

Keywords:  Dermolipoma; Eyelid coloboma; Goldenhar syndrome; Limbal dermoid; Lipodermoid

Year:  2019        PMID: 31760545     DOI: 10.1007/s10792-019-01227-0

Source DB:  PubMed          Journal:  Int Ophthalmol        ISSN: 0165-5701            Impact factor:   2.031


  33 in total

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Authors:  R J GORLIN; K L JUE; U JACOBSEN; E GOLDSCHMIDT
Journal:  J Pediatr       Date:  1963-11       Impact factor: 4.406

2.  Goldenhar syndrome: ocular features.

Authors:  S Bhallil; I Benatiya; O El Abdouni; B Mahjoubi; T Hicham
Journal:  Bull Soc Belge Ophtalmol       Date:  2010

3.  Surgical management of pediatric limbal dermoids with sutureless amniotic membrane transplantation and augmentation.

Authors:  Amir Pirouzian; Huck Holz; Kevin Merrill; Rattehalli Sudesh; Kris Karlen
Journal:  J Pediatr Ophthalmol Strabismus       Date:  2011-08-30       Impact factor: 1.402

4.  Retinal and optic nerve findings in Goldenhar-Gorlin syndrome.

Authors:  S Margolis; S Aleksic; N Charles; J McCarthy; A Greco; G Budzilovich
Journal:  Ophthalmology       Date:  1984-11       Impact factor: 12.079

5.  31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings.

Authors:  O Engiz; S Balci; M Unsal; S Ozer; K K Oguz; D Aktas
Journal:  Genet Couns       Date:  2007

6.  Congenital eyelid colobomas in 51 patients.

Authors:  Ashok Kumar Grover; Zia Chaudhuri; Sarmi Malik; Shaloo Bageja; Vikas Menon
Journal:  J Pediatr Ophthalmol Strabismus       Date:  2009 May-Jun       Impact factor: 1.402

7.  Prevalence of Oculo-auriculo-vertebral Spectrum in Dermolipoma.

Authors:  Jwu Jin Khong; Thomas G Hardy; Alan A McNab
Journal:  Ophthalmology       Date:  2013-05-15       Impact factor: 12.079

Review 8.  Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.

Authors:  P Martinelli; G M Maruotti; A Agangi; L L Mazzarelli; G Bifulco; D Paladini
Journal:  Ultrasound Obstet Gynecol       Date:  2004-08       Impact factor: 7.299

9.  Morning glory anomaly with bilateral choroidal colobomas in a patient with Goldenhar's syndrome.

Authors:  Zia Chaudhuri; Ashok K Grover; Shaloo Bageja; Shashi Nath Jha; Sanjiv Mohan
Journal:  J Pediatr Ophthalmol Strabismus       Date:  2007 May-Jun       Impact factor: 1.402

Review 10.  Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Authors:  Hatem A Tawfik; Mohamed H Abdulhafez; Yousef A Fouad
Journal:  Ophthalmic Plast Reconstr Surg       Date:  2015 Jan-Feb       Impact factor: 1.746

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Journal:  Int Ophthalmol       Date:  2022-07-08       Impact factor: 2.031

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