Abstract
This paper aims to document the clinical spectrum of the Stickler syndrome and to expose the importance of making this diagnosis. Our experience is based on 43 personally examined patients from 12 families with a total of over 80 affected Individuals.
The Stickler syndrome is a common autosomal dominant connective tissue dysplasia with almost complete penetrance but widely variable expressivity. Severely affected patients usually have a slender “marfanoid” body habitus, generalized muscular hypotonia, prominence and hyperextensibility of joints, and roentgenographic changes of mild (spondylo-) epiphyseal dysplasia and overtubulation. Neonatally, the “Pierre Robin Syndrome” may be a life-threatening manifestation of the Stickler syndrome. In less severely affected individuals a “flat” face and microstomia are characteristic. The major impact of the Stickler syndrome is as a cause of blindness in affected families. Moderate to severe myopia in 75% of patients is the individually most common ocular manifestation. About 20% of patients are blind due to “spontaneous” retinal detachment. It is our impression that careful follow-up and treatment of early retinal detachment may prevent some instances of blindness.
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Herrmann, J., France, T., Spranger, J. et al. THE STICKLER SYNDROME. Pediatr Res 8, 440 (1974). https://doi.org/10.1203/00006450-197404000-00598
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DOI: https://doi.org/10.1203/00006450-197404000-00598
