Literature DB >> 3085500

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.

E I Traboulsi, B M Faris, V M Der Kaloustian.   

Abstract

We report on a patient with oculo-dento-osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first-cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant form.

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Year:  1986        PMID: 3085500     DOI: 10.1002/ajmg.1320240111

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


  6 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors:  Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal:  J Community Genet       Date:  2014-09-27

Review 3.  Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Authors:  Shelagh K Joss; Sam Ghazawy; Susan Tomkins; Mushtaq Ahmed; John Bradbury; Eamonn Sheridan
Journal:  Eur J Pediatr       Date:  2007-05-03       Impact factor: 3.183

4.  A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Authors:  A Jamsheer; M Wisniewska; A Szpak; G Bugaj; M R Krawczynski; B Budny; A Wawrocka; A Latos-Bieleńska
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

5.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04

Review 6.  Emerging cellular themes in leukodystrophies.

Authors:  Joseph C Nowacki; Ashley M Fields; Meng Meng Fu
Journal:  Front Cell Dev Biol       Date:  2022-08-08
  6 in total

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