Síndrome de Robinow: um relato de caso

Abstract

This paper proposes to describe the case of a 25-year-old female patient, affected by Robinow Syndrome type 2, who was treated at the Medical Specialties Center of the University Center of the State of Pará (CEMEC, CESUPA). A case report increases scientific knowledge about, in this case, a rare disease, which may present difficulties in the diagnostic and treatment for someone who has not been introduced to the sub- ject, generating clinical error and ineffective treatment. The patient had a molecular test for skeletal dysplasia with alteration in the DVL1 gene, confirming the diagnosis of Robinow Syndrome type 2. Notes of her consultations were taken in the following spe- cialties: genetics, orthopedics, gynecology, nephrology, neurology and hematology, including the dates and conduct of each appointment. The patient remains, above all, hopeful about the future of her treatment, although she recognizes that a possible heart condition could lead her to death. She has no problem accepting her disability status. What bothers her most is the migraines, which causes serious functional impairment and for which treatment is generally ineffective.