PURPOSE: To define variations in the clinical manifestations of Stickler syndrome. METHODS: A questionnaire was sent to 612 persons. RESULTS: Of the 316 usable replies, 95% of persons had eye problems (retinal detachment occurred in 60% of patients, myopia in 90%, and blindness in 4%); 84% had problems with facial structures such as a flat face, small mandible, or cleft palate; 70%, hearing loss; and 90%, joint problems, primarily early joint pain from degenerative joint disease. Treatment included cryotherapy and laser therapy for retinal detachment, repair of cleft palate, use of hearing and mobility aids, and joint replacements. CONCLUSIONS: There are wide variations of symptoms and signs among affected persons, even within the same family. There are delays in diagnosis, lack of understanding among family members, denial about the risk of serious eye problems, and joint disease.

Adolescent↗

PubMedDate not supplied

Are yearly physical examinations in adolescents necessary?

BACKGROUND: Recommendations regarding the frequency of routine physical examinations for adolescents have varied from one examination every 2 to 3 years to yearly evaluations. Because none of these recommendations was based on studies regarding the usefulness of such examinations, it was pertinent to review the results of published studies. METHODS: All series of routine school and preathletic examinations of adolescents published in the English literature from 1943 to 1995 were reviewed. Only reviews of examinations by physicians with or without supervised health professionals were included. RESULTS: Findings included weight, blood pressure, visual acuity, innocent heart murmurs, scoliosis, referral for further testing, and serious abnormalities unknown before examination. A total of 20,047 examinations by 12 different groups of investigators was abstracted. Only 2 adolescents had major, previously unknown findings: 1 boy was blind in one eye and the other had mitral insufficiency. Elevated blood pressures were found in 0.1% to 1.6% of adolescents. Minor findings included acne, caries, myopia, and minor orthopedic problems, but they did not prevent participation in school or sports. CONCLUSIONS: Yearly physical examinations in adolescents are not cost-effective and have practically no value in finding important pathologic conditions. This conclusion would not apply to sexually active teenagers. The value of an examination for health education or detection of mental problems has never been tested in this population. For entrance to school and camps or for sports participation, the review of a questionnaire and screening examinations by allied health providers should be the method of choice unless future studies justify repeated yearly examination of adolescents.

Adolescent↗

PubMedDate not supplied

Corneal crystals, myopathy and nephropathy: a new syndrome?

A case with ocular (corneal crystals and retinal pigment epithelial mottling), muscle (oropharyngeal and hand weakness and atrophy), and renal (proteinuria and hypertension) abnormalities is described. We believe that this represents a previously unrecognized syndrome.

Adolescent↗