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Pregnancy management in a patient with stickler syndrome.


ABSTRACT:

Background

Stickler syndrome is a collagen disorder that can affect multiple organ systems. It is characterized by ocular abnormalities, hearing loss, midfacial hypoplasia, hypermobility, and joint abnormalities. The phenotypic expression of Stickler syndrome can vary among those affected. Since Stickler syndrome is a collagen disorder, it is possible to expect pregnancy complications similar to those reported in other collagen disorders. To our knowledge, there is only one case report in the literature on the management of pregnancy and delivery of a patient with Stickler syndrome.

Methods/case report

A 37-year-old primigravid woman with a diagnosis of Stickler syndrome presented at 9 weeks gestation for prenatal genetic consultation. At 26, the patient had prophylactic las

SUBMITTER: Gomez J 

PROVIDER: S-EPMC7434740 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature