Literature DB >> 5173248

A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).

M M Cohen, W H Knobloch, R J Gorlin.   

Abstract

A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.

Entities:  

Mesh:

Year:  1971        PMID: 5173248

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  8 in total

1.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

Review 2.  The Wagner-Stickler syndrome complex.

Authors:  V Godel; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1981-12-16       Impact factor: 2.379

3.  Syndromes of genetic juvenile retinal detachment.

Authors:  R J Gorlin; W H Knobloch
Journal:  Z Kinderheilkd       Date:  1972

4.  Stickler syndrome. Report of a second Australian family.

Authors:  K Kozlowski; G Turner
Journal:  Pediatr Radiol       Date:  1975-09-15

5.  Inherited hyaloideoretinopathy and skeletal dysplasia.

Authors:  W H Knobloch
Journal:  Trans Am Ophthalmol Soc       Date:  1975

6.  Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Authors:  Alexander G Bassuk; Lakshmi B Muthuswamy; Riley Boland; Tiffany L Smith; Alissa M Hulstrand; Hope Northrup; Matthew Hakeman; Jason M Dierdorff; Christina K Yung; Abby Long; Rachel B Brouillette; Kit Sing Au; Christina Gurnett; Douglas W Houston; Robert A Cornell; J Robert Manak
Journal:  Hum Mol Genet       Date:  2012-12-07       Impact factor: 6.150

7.  Retinal detachment in median cleft-face syndrome.

Authors:  V Feiler-Ofry; V Godel; P Nemet; M Lazar
Journal:  Br J Ophthalmol       Date:  1980-02       Impact factor: 4.638

8.  Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

Authors:  Oscar Suzuki; Erika Kague; Kelly Bagatini; Hongmin Tu; Ritva Heljasvaara; Lorenza Carvalhaes; Elisandra Gava; Gisele de Oliveira; Paulo Godoi; Glaucius Oliva; Gregory Kitten; Taina Pihlajaniemi; Maria-Rita Passos-Bueno
Journal:  Mol Vis       Date:  2009-04-23       Impact factor: 2.367

  8 in total

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