Literature DB >> 24959523

Goldenhar syndrome - review with case series.

C Seethalakshmi Ashokan1, Arathi Sreenivasan2, Gopal K Saraswathy3.   

Abstract

Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present.

Entities:  

Keywords:  Auricular appendices; Deformity; Goldenhar’s syndrome; Oculo-auriculo-vertebral

Year:  2014        PMID: 24959523      PMCID: PMC4064862          DOI: 10.7860/JCDR/2014/7926.4260

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  9 in total

Review 1.  OCULOAURICULOVERTEBRAL DYSPLASIA.

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

2.  Hemifacial microsomia: from gestation to childhood.

Authors:  Martha M Werler; Jacqueline R Starr; Yona K Cloonan; Matthew L Speltz
Journal:  J Craniofac Surg       Date:  2009-03       Impact factor: 1.046

3.  Goldenhar syndrome.

Authors:  Neeraj Sharma; Sidhi Passi
Journal:  Indian J Dent Res       Date:  2013 Jan-Feb

4.  Goldenhar syndrome with unusual features.

Authors:  Bijal Mehta; Chitra Nayak; Shankar Savant; Sangeeta Amladi
Journal:  Indian J Dermatol Venereol Leprol       Date:  2008 May-Jun       Impact factor: 2.545

Review 5.  [A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy].

Authors:  R L Mounoud; D Klein; F Weber
Journal:  J Genet Hum       Date:  1975-06

6.  Goldenhar syndrome associated with various cardiovascular malformations.

Authors:  H Nakajima; G Goto; N Tanaka; H Ashiya; C Ibukiyama
Journal:  Jpn Circ J       Date:  1998-08

7.  Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).

Authors:  Karin Källén; Elisabeth Robert; Eduardo E Castilla; Pierpaolo Mastroiacovo; Bengt Källén
Journal:  Am J Med Genet A       Date:  2004-05-15       Impact factor: 2.802

8.  Goldenhar syndrome: a report of 3 cases.

Authors:  Sudarshan P Gaurkar; Khushboo D Gupta; Kirti S Parmar; Bela J Shah
Journal:  Indian J Dermatol       Date:  2013-05       Impact factor: 1.494

9.  A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb.

Authors:  Amitava Das; Biswarup Ray; Debabrata Das; Somnath Das
Journal:  Indian J Ophthalmol       Date:  2008 Mar-Apr       Impact factor: 1.848

  9 in total
  9 in total

Review 1.  Congenital anomalies of the optic nerve.

Authors:  Manuel J Amador-Patarroyo; Mario A Pérez-Rueda; Carlos H Tellez
Journal:  Saudi J Ophthalmol       Date:  2014-09-28

2.  Bilateral retinal detachment in Goldenhar syndrome.

Authors:  Phuntsho Dorji; Muralidhar Ramappa; Brijesh Takkar
Journal:  Indian J Ophthalmol       Date:  2020-11       Impact factor: 1.848

Review 3.  Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering.

Authors:  Taylor Nicholas Snider; Yuji Mishina
Journal:  Birth Defects Res C Embryo Today       Date:  2014-09-16

4.  Goldenhar Syndrome Associated with Extensive Arterial Malformations.

Authors:  Renee Frances Modica; L Daphna Yasova Barbeau; Jennifer Co-Vu; Richard D Beegle; Charles A Williams
Journal:  Case Rep Pediatr       Date:  2015-11-25

5.  Goldenhar Syndrome: A Case Report with Review.

Authors:  Mridula Goswami; Urvashi Bhushan; Babita Jangra
Journal:  Int J Clin Pediatr Dent       Date:  2016-09-27

6.  A Constellation of Rare Findings in a Case of Goldenhar Syndrome.

Authors:  Mitesh Bedi; Rakesh Kumar Jain; Vipin Kumar Barala; Abhimanyu Singh; Hiranmayi Jha
Journal:  Case Rep Pediatr       Date:  2017-05-21

7.  Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.

Authors:  Fu-Jun Lin; Wei Lu; Daniel Gale; Yao Yao; Ren Zou; Fan Bian; Geng-Ru Jiang
Journal:  Exp Ther Med       Date:  2016-01-29       Impact factor: 2.447

Review 8.  Goldenhar Syndrome - ophthalmologist's perspective.

Authors:  Speranţa Schmitzer; Miruna Burcel; Dana Dăscălescu; Ioana Claudia Popteanu
Journal:  Rom J Ophthalmol       Date:  2018 Apr-Jun

9.  Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome.

Authors:  Deepika Dhingra; Gunjan Joshi; Sushmita Kaushik; Surinder S Pandav
Journal:  Indian J Ophthalmol       Date:  2019-10       Impact factor: 1.848

  9 in total

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