Literature DB >> 3681908

Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.

P H Jongbloet1.   

Abstract

In contrast to the opinion of Yovich et al, who documented Goldenhar syndrome in one of possibly monozygous twin brothers conceived by in vitro fertilisation and embryo transfer, I suggest that ovopathy is the cause of this anomaly. The eight criteria which have to be met before a condition can be said to be caused by overripeness ovopathy are shown to be satisfied. My conclusion remains that, in general, sporadically occurring Goldenhar variants, as distinct from familial cases, should be considered to be just casualities in the broad 'continuum of reproductive wastage' seen in high risk conceptions, one of which is IVF. This concept increases our understanding of human variation not satisfactorily explained by Mendelian inheritance.

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Year:  1987        PMID: 3681908      PMCID: PMC1050290          DOI: 10.1136/jmg.24.10.616

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  40 in total

1.  Association of birth defects and immunodeficiency.

Authors:  B Say; G C Miller; N Barber; S Grogg
Journal:  J Pediatr       Date:  1979-05       Impact factor: 4.406

2.  Intrafollicular overripeness and teratologic development.

Authors:  K Mikamo
Journal:  Cytogenetics       Date:  1968

3.  Monozygotic twinning, structural defects, and syndromes "of obscure etiology".

Authors:  P H Jongbloet
Journal:  J Pediatr       Date:  1980-11       Impact factor: 4.406

4.  [Diagnostic and therapeutic problems in a clinical case of oculoauricular dysplasia associated with mandibule-facial dysostosis (Franceschetti-Goldenhar syndrome)].

Authors:  T Schwartzenberg; P P Vancea; V Scânteie; M Covic
Journal:  Ophthalmologica       Date:  1978       Impact factor: 3.250

5.  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

6.  Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

Authors:  M Melnick; M E Hodes; W E Nance; H Yune; A Sweeney
Journal:  Clin Genet       Date:  1978-05       Impact factor: 4.438

7.  Congenital facial palsy and ipsilateral deafness: association with maternal diabetes mellitus.

Authors:  E S Gratz; M A Pollack; R D Zimmerman
Journal:  Int J Pediatr Otorhinolaryngol       Date:  1981-12       Impact factor: 1.675

8.  Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

Authors:  M E Hodes; S Gleiser; G P DeRosa; H Y Yune; D A Girod; D D Weaver; C G Palmer
Journal:  J Craniofac Genet Dev Biol       Date:  1981

9.  The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.

Authors:  P A Duncan; L R Shapiro; J J Stangel; R M Klein; J C Addonizio
Journal:  J Pediatr       Date:  1979-09       Impact factor: 4.406

10.  [A new case of pentasomy X].

Authors:  C Schroeter; K Jährig; I Weinke
Journal:  Helv Paediatr Acta       Date:  1980-07
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  10 in total

1.  Three-dimensional CT evaluation of oculoauriculovertebral spectrum patients use of Katsumata's asymmetry index.

Authors:  Elisabeth Hofmann; Matthias Schmid; Stefanie Steinhäuser-Andresen; Ursula Hirschfelder
Journal:  J Orofac Orthop       Date:  2016-04-21       Impact factor: 1.938

2.  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

Review 3.  Oculoauriculovertebral spectrum and cerebral anomalies.

Authors:  C T Schrander-Stumpel; C E de Die-Smulders; R C Hennekam; J P Fryns; P X Bouckaert; O F Brouwer; J J da Costa; E J Lommen; P D Maaswinkel-Mooy
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

Review 4.  Syndromes of the first and second branchial arches, part 2: syndromes.

Authors:  J M Johnson; G Moonis; G E Green; R Carmody; H N Burbank
Journal:  AJNR Am J Neuroradiol       Date:  2010-04-01       Impact factor: 3.825

5.  Case report: Goldenhar syndrome following donor oocyte IVF.

Authors:  Victoria Gittins; Jason Kasraie
Journal:  J Assist Reprod Genet       Date:  2010-06-23       Impact factor: 3.412

6.  'Inside-out', back-to-front: a model for clinical population genetic screening.

Authors:  D Shickle; I Harvey
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

7.  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

8.  Autism with ophthalmologic malformations: the plot thickens.

Authors:  Marilyn T Miller; Kerstin Strömland; Liana Ventura; Maria Johansson; Jose M Bandim; Christopher Gillberg
Journal:  Trans Am Ophthalmol Soc       Date:  2004

9.  Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential.

Authors:  Anna Kosubek; Ludger Klein-Hitpass; Katrin Rademacher; Bernhard Horsthemke; Gerhart U Ryffel
Journal:  PLoS One       Date:  2010-10-22       Impact factor: 3.240

10.  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

  10 in total

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