Elsevier

The Journal of Pediatrics

Volume 99, Issue 3, September 1981, Pages 394-399
The Journal of Pediatrics

Original article
The Wagner-Stickler syndrome: A study of 22 families1

https://doi.org/10.1016/S0022-3476(81)80324-1Get rights and content

The Wagner-Stickler syndrome is a hereditary progressive arthro-ophthalmopathy with an autosomal dominant pattern of inheritance. Affected persons may have a wide variety of ocular, orofacial, and skeletal problems. We examined 22 index patients and 68 of their relatives. Of these 90 persons (41 in the pediatric age group), 70 were found to have the syndrome. We determined the frequency of the various problems and identified several progressive features. We established an approximate age of onset in the group with known retinal disease and in the asymptomatic group identified by family screening. Although the latter group was initially more mildly affected, they were at risk to develop serious ocular problems. Screening all relatives of affected persons for nonocular features of the syndrome should permit early diagnosis in the asymptomatic group and improve the long-term prognosis.

References (22)

  • MaumeneeIH

    Vitreoretinal degeneration as a sign of generalized connective tissue diseases

    Am J Ophthalmol

    (1979)
  • BlairNP et al.

    Hereditary progressive arthro-ophthalmopathy of Stickler

    Am J Ophthalmol

    (1979)
  • LiberfarbRM et al.

    The Wagner-Stickler syndrome—a genetic study

    Birth Defects

    (1979)
  • WagnerH

    Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich

    Klin Monastbl Augenheilkd

    (1938)
  • SticklerGB et al.

    Hereditary progressive arthroophthalmopathy

    Mayo Clin Proc

    (1965)
  • SticklerGB et al.

    Hereditary progressive arthroophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect and a report of a similar case

    Mayo Clin Proc

    (1967)
  • BöhringerHR et al.

    Zur Klinik und Pathologie der Degeneratio hyaloideo-retinalis hereditaria (Wagner)

    Ophthalmologica

    (1960)
  • RicciA

    Clinique et transmission génétique des différentes formes de dégénérescences vitréo-rétiniennes

    Ophthalmologica

    (1960)
  • JansenLMAA

    Degeneratio hyaloideo-retinalis hereditaria

    Ophthalmologica

    (1962)
  • DelaneyWV et al.

    Inherited retinal detachment

    Arch Ophthalmol

    (1963)
  • AlexanderRL et al.

    Wagner's disease

    Arch Ophthalmol

    (1965)
  • Cited by (52)

    • Hereditary Vitreoretinal Degenerations

      2005, Retina: Fourth Edition
    • Stickler syndrome: Clinical care and molecular genetics

      2002, American Journal of Ophthalmology
    • Stickler syndrome: case report

      2022, Journal of Pediatric and Neonatal Individualized Medicine
    View all citing articles on Scopus
    1

    Supported in part by United States Public Health Service Training Grant 5 T01 GM 002249 and National Institutes of Health Grant HD 15241. Presented in part at the 1978 Birth Defects Conference, San Francisco, June, 1978.

    View full text