Literature DB >> 3314503

Goldenhar complex in discordant monozygotic twins: a case report and review of the literature.

D J Boles1, J Bodurtha, W E Nance.   

Abstract

In 1952, Goldenhar described a pair of monozygotic twins who were discordant for epibulbar dermoids, auricular appendages, malformations of the auricle, and hemifacial microsomia. Eighteen twin pairs have subsequently been described in which at least one member exhibited these manifestations. We report on an additional pair of discordant dichorionic monozygotic male twins. All of the 5 monozygotic twin pairs for which placental information is available have been discordant and 2 of these had dichorionic membranes. The failure of discordant monozygotic twins to be limited to monochorionic pairs argues against the hypothesis that developmental abnormalities arising from the placental vascular anastomoses that are commonly found in monozygotic twins is the probable explanation for the discordant expression of these traits in twins.

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Year:  1987        PMID: 3314503     DOI: 10.1002/ajmg.1320280115

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

Review 1.  Twinning and mitotic crossing-over: some possibilities and their implications.

Authors:  G B Côté; J Gyftodimou
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

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.  45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships.

Authors:  Gareth Baynam; Jack Goldblatt
Journal:  J Maxillofac Oral Surg       Date:  2009-11-21

4.  Goldenhar-Gorlin's syndrome: A case report.

Authors:  J K Sharma; S K Pippal; S K Raghuvanshi; Arora Shitij
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2006-01

5.  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

6.  Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

Authors:  Dagmar Wieczorek; Michael Ludwig; Stefan Boehringer; Piet Hein Jongbloet; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke
Journal:  Hum Genet       Date:  2007-02-13       Impact factor: 5.881

7.  Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Authors:  Valentina Guida; Luciano Calzari; Maria Teresa Fadda; Francesca Piceci-Sparascio; Maria Cristina Digilio; Laura Bernardini; Francesco Brancati; Teresa Mattina; Daniela Melis; Francesca Forzano; Silvana Briuglia; Tommaso Mazza; Sebastiano Bianca; Enza Maria Valente; Leila Bagherjad Salehi; Paolo Prontera; Mario Pagnoni; Romano Tenconi; Bruno Dallapiccola; Giorgio Iannetti; Luigi Corsaro; Alessandro De Luca; Davide Gentilini
Journal:  Int J Mol Sci       Date:  2021-01-26       Impact factor: 5.923

8.  Goldenhar Syndrome: A rare case report.

Authors:  Ruchi Bhuyan; Abhishek Ranjan Pati; Sanat Kumar Bhuyan; Bikash Bishwadarshee Nayak
Journal:  J Oral Maxillofac Pathol       Date:  2016 May-Aug

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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