Literature DB >> 4050929

Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome).

A M Mansour, F Wang, P Henkind, R Goldberg, R Shprintzen.   

Abstract

We reviewed the ocular findings in 57 consecutive patients with the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Epibulbar choristomas were detected in 18 cases (32%), a much lower occurrence than reported previously. Various motility disorders (11 cases, 19%), blepharoptosis or narrow palpebral fissures (seven cases, 12%), eyelid colobomas (six cases, 11%), and lacrimal drainage system anomalies (six cases, 11%) were more frequent than previously noted. These ocular findings were more common in the patients with epibulbar choristomas. Of the various features of the Goldenhar-Gorlin syndrome (skin tags, microtia, hemifacial microsomia, and vertebral anomalies), only skin tags correlated positively with the laterality of epibulbar choristomas. Preauricular and facial tags represent choristomas, explaining their association with epibulbar choristomas and the laterality they share.

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Mesh:

Year:  1985        PMID: 4050929     DOI: 10.1016/0002-9394(85)90681-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  10 in total

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

Authors:  Manpreet Singh; Manpreet Kaur; Aditi Mehta Grewal; Sonam Yangzes; Deepti Yadav; Zoramthara Zadeng; Pankaj Gupta
Journal:  Int Ophthalmol       Date:  2019-11-23       Impact factor: 2.031

2.  Phenotypic characterization of epibulbar dermoids.

Authors:  Brian A Walker; Babette S Saltzman; Erin P Herlihy; Daniela V Luquetti
Journal:  Int Ophthalmol       Date:  2016-07-12       Impact factor: 2.031

3.  Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.

Authors:  R Manara; D Brotto; S Ghiselli; R Mardari; I Toldo; G Schifano; E Cantone; R Bovo; A Martini
Journal:  AJNR Am J Neuroradiol       Date:  2015-03-26       Impact factor: 3.825

4.  Surgical treatment of corneal dermoid by using intrastromal lenticule obtained from small-incision lenticule extraction.

Authors:  Qi Wan; Jing Tang; Yu Han; Hongquan Ye
Journal:  Int Ophthalmol       Date:  2019-11-17       Impact factor: 2.031

5.  The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas.

Authors:  H B Smith; D H Verity; J R O Collin
Journal:  Eye (Lond)       Date:  2015-01-23       Impact factor: 3.775

6.  The eye in the CHARGE association.

Authors:  I M Russell-Eggitt; K D Blake; D S Taylor; R K Wyse
Journal:  Br J Ophthalmol       Date:  1990-07       Impact factor: 4.638

7.  Lipodermoid Cyst: A Report of a Rare Caruncular Case.

Authors:  Mohammad Taher Rajabi; Koosha Ramezani
Journal:  Middle East Afr J Ophthalmol       Date:  2015 Oct-Dec

Review 8.  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

Review 9.  Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Authors:  Flavio Mantelli; Chiara Nardella; Eloisa Tiberi; Marta Sacchetti; Alice Bruscolini; Alessandro Lambiase
Journal:  Biomed Res Int       Date:  2015-09-16       Impact factor: 3.411

10.  In vivo confocal microscopy in goldenhar syndrome: a case report.

Authors:  Giacinto Triolo; Giulio Ferrari; Claudio Doglioni; Paolo Rama
Journal:  BMC Ophthalmol       Date:  2013-10-16       Impact factor: 2.209

  10 in total

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