Literature DB >> 1233443

Stickler syndrome. Report of a second Australian family.

K Kozlowski, G Turner.   

Abstract

Three cases of Stickler Syndrome (hereditary progressive arthro-ophthalmopathy) in a family are described. This disease is caused by a dominant gene with incomplete penetrance, and shows variability in its symptomatology and clinical and radiographic findings among members of the same families. The radiographic appearances, although seldom diagnostic, are often suggestive of the disease or supportive in doubtful cases.

Entities:  

Mesh:

Year:  1975        PMID: 1233443     DOI: 10.1007/BF00975409

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  8 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.  WAGNER'S DISEASE.

Authors:  R L ALEXANDER; M SHEA
Journal:  Arch Ophthalmol       Date:  1965-09

3.  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

4.  [Hereditary arthro-ophthalmopathy].

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

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

Authors:  M M Cohen; W H Knobloch; R J Gorlin
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06

6.  Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait.

Authors:  J Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1974

7.  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

8.  Syndromes of genetic juvenile retinal detachment.

Authors:  R J Gorlin; W H Knobloch
Journal:  Z Kinderheilkd       Date:  1972
  8 in total
  3 in total

1.  Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families.

Authors:  J J MacDessi; K Kozlowski; S Posen
Journal:  Pediatr Radiol       Date:  1978-12-04

2.  Bone dysplasias in radiographic diagnosis.

Authors:  K Kozlowski
Journal:  Pediatr Radiol       Date:  1976-02-13

3.  Mandibular and para-mandibular tumors in children. Report of 16 cases.

Authors:  K Kozlowski; J Masel; P Sprague; L Tamaela; A Kan; R Middleton
Journal:  Pediatr Radiol       Date:  1981
  3 in total

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