Literature DB >> 1219119

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.

J G Hall, H Herrod.   

Abstract

The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.

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Mesh:

Year:  1975        PMID: 1219119      PMCID: PMC1013319          DOI: 10.1136/jmg.12.4.397

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


  7 in total

1.  HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

Authors:  G B STICKLER; P G BELAU; F J FARRELL; J D JONES; D G PUGH; A G STEINBERG; L E WARD
Journal:  Mayo Clin Proc       Date:  1965-06       Impact factor: 7.616

2.  Stickler syndrome in a pedigree of Pierre Robin syndrome.

Authors:  R L Schreiner; W H McAlister; R E Marshall; W T Shearer
Journal:  Am J Dis Child       Date:  1973-07

3.  Wagner's hereditary vitreoretinal degeneration and retinal detachment.

Authors:  T Hirose; K Y Lee; C L Schepens
Journal:  Arch Ophthalmol       Date:  1973-03

4.  Clefting syndromes associated with retinal detachment.

Authors:  W H Knobloch; J M Layer
Journal:  Am J Ophthalmol       Date:  1972-04       Impact factor: 5.258

5.  [Hereditary arthro-ophthalmopathy].

Authors:  J Spranger
Journal:  Ann Radiol (Paris)       Date:  1968

6.  The Stickler syndrome.

Authors:  J M Opitz; T France; J Herrmann; J W Spranger
Journal:  N Engl J Med       Date:  1972-03-09       Impact factor: 91.245

Review 7.  The Stickler syndrome (hereditary arthroophthalmopathy).

Authors:  J Herrmann; T D France; J W Spranger; J M Opitz; C Wiffler
Journal:  Birth Defects Orig Artic Ser       Date:  1975
  7 in total
  4 in total

Review 1.  The Wagner-Stickler syndrome complex.

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

Review 2.  Dominant Stickler Syndrome.

Authors:  Zack Soh; Allan J Richards; Annie McNinch; Philip Alexander; Howard Martin; Martin P Snead
Journal:  Genes (Basel)       Date:  2022-06-18       Impact factor: 4.141

3.  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

4.  Auditory dysfunction in type 2 Stickler Syndrome.

Authors:  Philip Alexander; Philip Gomersall; Jack Stancel-Lewis; Gregory Scott Fincham; Arabella Poulson; Allan Richards; Annie McNinch; David M Baguley; Martin Snead
Journal:  Eur Arch Otorhinolaryngol       Date:  2020-09-08       Impact factor: 2.503

  4 in total

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