Literature DB >> 6684097

Genetic aspects of hemifacial microsomia.

U Burck.   

Abstract

The majority of patients with hemifacial microsomia (HM) including Goldenhar syndrome are sporadic cases. The sporadic nature of this disorder is emphasized by the discordant occurrence of HM in one of female monozygotic twins reported here. Previous publications, however, also suggest autosomal dominant and autosomal recessive modes of inheritance. Possible formes frustes will also have to be considered when giving genetic counsel.

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Year:  1983        PMID: 6684097     DOI: 10.1007/bf00279415

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  22 in total

Review 1.  External ear malformations: epidemiology, genetics, and natural history.

Authors:  M Melnick; N C Myrianthopoulos; N W Paul
Journal:  Birth Defects Orig Artic Ser       Date:  1979

2.  [Discordant Franceschetti-Goldenhar syndrome in 2 monozygotic twins].

Authors:  J Cordier; M Stricker; A Reny; A Raspiller
Journal:  Arch Ophtalmol Rev Gen Ophtalmol       Date:  1970-04

3.  Otomandibular deformity: pathogenesis as a guide to reconstruction.

Authors:  D Poswillo
Journal:  J Maxillofac Surg       Date:  1974-08

4.  Probably monozygotic twins with discordance for Goldenhar syndrome.

Authors:  Z Papp; S Gardó; J Walawska
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  [Maxillo-ocular syndromes].

Authors:  H Saraux; L Besnainou
Journal:  Ann Ocul (Paris)       Date:  1965-10

6.  [Contribution on the clinical aspects of the Goldenhar syndrome].

Authors:  K Heimann
Journal:  Klin Monbl Augenheilkd       Date:  1968-05       Impact factor: 0.700

Review 7.  The first and second branchial arch syndrome.

Authors:  W C Grabb
Journal:  Plast Reconstr Surg       Date:  1965-11       Impact factor: 4.730

8.  Etiologic heterogeneity in the oculoauriculovertebral syndrome.

Authors:  E S Setzer; N Ruiz-Castaneda; C Severn; S Ryden; J L Frias
Journal:  J Pediatr       Date:  1981-01       Impact factor: 4.406

9.  Monozygotic twinning and structural defects.

Authors:  A A Schinzel; D W Smith; J R Miller
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406

10.  Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia.

Authors:  M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06
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  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.  Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.

Authors:  P H Jongbloet
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

4.  Genetic aspects of hemifacial microsomia.

Authors:  J M Connor; C Fernandez
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: syndrome or association?

Authors:  S Preis; F Majewski; R Hantschmann; H Schumacher; H G Lenard
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

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.  A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210.

Authors:  K N Venkateshwara Prasad; Arvind Rajha; Pradeep Kumar Vegi
Journal:  Case Rep Pediatr       Date:  2013-08-19

8.  A comprehensive review of the genetic basis of cleft lip and palate.

Authors:  Sarvraj Singh Kohli; Virinder Singh Kohli
Journal:  J Oral Maxillofac Pathol       Date:  2012-01

9.  Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract.

Authors:  U D Shrestha; S Adhikari
Journal:  Case Rep Ophthalmol Med       Date:  2015-10-08
  9 in total

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