Research paper
Otolaryngological manifestations of the Stickler syndrome

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Abstract

The Stickler syndrome is a dominantly inherited, connective tissue disorder associated with retinal detachments, joint and skeletal abnormalities, and characteristic facies. We wished to evaluate patients with this disorder to ascertain the frequency of otolaryngological manifestations. Fourteen patients, 4–17 years of age, were evaluated when admitted for retinal detachment. Findings included: midface hypoplasia in all patients; mandibular hypoplasia in 11 patients; palatal anomalies in 10 patients (frank cleft in 6, submucous cleft in two, highly arched palate in two); and hearing loss in 6 patients (mixed loss in 3, sensorineural loss in 3). Hearing loss appeared more commonly in the higher frequencies; no apparent correlation was found between the presence of hearing loss and orofacial anomalies. Our experience suggests that the Stickler syndrome is not rare. Craniofacial dysmorphic features and otologic findings are sufficiently frequent to warrant otolaryngological evaluation.

References (19)

  • N.P. Blair et al.

    Hereditary progressive arthro-ophthalmopathy of Stickler

    Am. J. Ophthalmol.

    (1979)
  • R.M. Liberfarb et al.

    The Wagner-Stickler syndrome: a study of 22 families

    J. Pediatr.

    (1981)
  • R.K. Beals

    Hereditary arthro-ophthalmopathy (The Stickler Syndrome). Report of a kindred with protrusio acetabuli

    Clin. Orthop.

    (1977)
  • V. Godel et al.

    The Wagner-Stickler Syndrome Complex

    Doc. Ophthalmol.

    (1981)
  • J.G. Hall et al.

    The Stickler Syndrome presenting as a dominantly inherited cleft palate and blindness

    J. Med. Genet.

    (1975)
  • J. Herrmann et al.

    The Stickler Syndrome (hereditary arthroophthalmopathy)

    Birth Defects

    (1975)
  • T.E. Kelly et al.

    The Weissenbacher-Zweymuller syndrome: possible neonatal expressions the Stickler syndrome

    Am. J. Med. Genet.

    (1982)
  • B.W. Konigsmark et al.

    Genetic and Metabolic Deafness

    (1976)
  • R.M. Liberfarb et al.

    The Wagner-Stickler syndrome — A genetic study

    Birth Defects

    (1979)
There are more references available in the full text version of this article.

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