1. [Genetic and ophthalmological assessment of patients with type II Stickler syndrome].
- Author
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Dias VG, Salem MC, and Benetti Filho CC
- Subjects
- Abnormalities, Multiple genetics, Adolescent, Adult, Aged, Child, Female, Hand Bones diagnostic imaging, Hearing Loss, Sensorineural diagnosis, Hearing Loss, Sensorineural genetics, Humans, Intraocular Pressure, Male, Middle Aged, Myopia genetics, Pedigree, Phenotype, Radiography, Syndrome, Vitreous Body physiology, Vitreous Detachment genetics, Wrist diagnostic imaging, Abnormalities, Multiple diagnosis, Myopia diagnosis, Vitreous Detachment diagnosis
- Abstract
Purpose: To diagnose, evaluate and describe the clinical, genetic and ophthalmic characteristics of a family with type II Stickler syndrome., Methods: X-rays for bone age, clinical and genetic evaluation were performed in all patients with ocular alterations. The Stickler syndrome diagnosis was established after correlating these examinations., Results: Type II Stickler syndrome was found in 11 patients. The most important ocular findings were: high myopia (80%), lens subluxation (70%), exotropia (50%) and vitreoretinal abnormalities (80%) including vitreous cavity (50%). The clinical genetic examination disclosed that 30% of the patients had micrognathia, 50% hearing loss, 40% nasal depression and 60% high palate. Seven cases had articular hypermotility and long fingers and arthropathy was present in 3 cases., Conclusion: Diagnosis of the Stickler syndrome is difficult due to its phenotypic variability and the existence of other genetic syndromes with similar characteristics. Hand and wrist radiographs are of particular importance in the diagnosis of this syndrome.
- Published
- 2006
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