Stickler syndrome is a genetic disorder that affects collagen formation. Diagnosed during infancy, it presents with facial abnormalities, joint problems, and visual and hearing disturbances. Collagen plays a vital role in connective tissue development, so it is not surprising these patients have significant joint involvement secondary to mutations in collagen formation. It is inherited in an autosomal-dominant manner and is commonly referred to as arthro-ophthalmopathy given its presenting features. Patients can present as a difficult airway secondary to craniofacial features, so experienced anesthesia personnel should be available for airway management. If the clinical findings are treated early, the overall prognosis is reassuring.

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Stickler Syndrome

  • Sheaba L. Varghese,
  • Sharon Luo,
  • Nathalie Peiris

摘要

Stickler syndrome is a genetic disorder that affects collagen formation. Diagnosed during infancy, it presents with facial abnormalities, joint problems, and visual and hearing disturbances. Collagen plays a vital role in connective tissue development, so it is not surprising these patients have significant joint involvement secondary to mutations in collagen formation. It is inherited in an autosomal-dominant manner and is commonly referred to as arthro-ophthalmopathy given its presenting features. Patients can present as a difficult airway secondary to craniofacial features, so experienced anesthesia personnel should be available for airway management. If the clinical findings are treated early, the overall prognosis is reassuring.