Literature DB >> 32190180

Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report).

Sergey Lvovich Kabak1, Nina Alexandrovna Savrasova2, Valentina Vladimirovna Zatochnaya1, Yuliya Michailovna Melnichenko1.   

Abstract

The article presents a case report and literature review of hemifacial microsomia with cervical vertebral anomalies. Unilateral hypoplasia of the mandible, congenital anomalies of the external ear and cervical spine pathology identified in this case are common major signs/symptoms of Goldenhar (Goldenhar-Gorlin) syndrome. Complete fusion of bodies and spinous processes of the second and third cervical vertebrae as well as atlantooccipital assimilation and anterior cleft of the atlas were also found. All abnormalities were accidentally identified and not accompanied by clinical symptoms. Copyright Journal of Radiology Case Reports.

Entities:  

Keywords:  Goldenhar (Goldenhar-Gorlin) syndrome; Hemifacial microsomia; cone beam computed tomography; craniofacial microsomia; facio-auriculo-vertebral sequence; first and second branchial arch syndrome; lateral facial dysplasia; oculo-auriculo-vertebral dysplasia; oculo-auriculo-vertebral spectrum; temporomandibular joint abnormalities; unilateral oto-mandibular dysostosis; vertebral anomalies

Mesh:

Year:  2019        PMID: 32190180      PMCID: PMC7060003          DOI: 10.3941/jrcr.v13i11.3687

Source DB:  PubMed          Journal:  J Radiol Case Rep        ISSN: 1943-0922


  17 in total

1.  Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Eur Spine J       Date:  2014-02-07       Impact factor: 3.134

Review 2.  Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

Authors:  Ana Beleza-Meireles; Jill Clayton-Smith; Jorge M Saraiva; May Tassabehji
Journal:  J Med Genet       Date:  2014-08-12       Impact factor: 6.318

Review 3.  Congenital scoliosis: a review and update.

Authors:  Daniel Hedequist; John Emans
Journal:  J Pediatr Orthop       Date:  2007 Jan-Feb       Impact factor: 2.324

4.  Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Authors:  Ingeborg Barisic; Ljubica Odak; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Larraitz Arriola; Jorieke Bergman; Sebastiano Bianca; Berenice Doray; Babak Khoshnood; Kari Klungsoyr; Bob McDonnell; Anna Pierini; Judith Rankin; Anke Rissmann; Catherine Rounding; Annette Queisser-Luft; Gioacchino Scarano; David Tucker
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

Review 5.  Hemifacial microsomia: developmental consequence of perturbation of the auriculofacial cartilage model?

Authors:  R R Cousley; D J Wilson
Journal:  Am J Med Genet       Date:  1992-02-15

6.  OMENS-Plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia.

Authors:  J E Horgan; B L Padwa; R A LaBrie; J B Mulliken
Journal:  Cleft Palate Craniofac J       Date:  1995-09

Review 7.  Etiology and Pathogenesis of Hemifacial Microsomia.

Authors:  Q Chen; Y Zhao; G Shen; J Dai
Journal:  J Dent Res       Date:  2018-09-11       Impact factor: 6.116

Review 8.  Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.

Authors:  Siulan Vendramini-Pittoli; Nancy Mizue Kokitsu-Nakata
Journal:  Clin Dysmorphol       Date:  2009-04       Impact factor: 0.816

9.  Goldenhar Syndrome: A Case Report with Review.

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

10.  Parry Romberg syndrome: A case report and discussion.

Authors:  Ramasamy Madasamy; Muruganandhan Jayanandan; Uma Revathy Adhavan; Sivakumar Gopalakrishnan; Lodd Mahendra
Journal:  J Oral Maxillofac Pathol       Date:  2012-09
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  1 in total

1.  Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report.

Authors:  Yu Han; Run-Qin Yang; Liu Hong; Cui-Ping Zhong; Ding-Jun Zha
Journal:  BMC Surg       Date:  2021-07-03       Impact factor: 2.102

  1 in total

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