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Published on: February 25, 2022
[Coffin-Lowry syndrome]
1Universidade Estadual de Londrina, Londrina, PR, Brazil.
Abstract:
OBJECTIVE: To promote the diffusion of the knowledge on the Coffin-Lowry syndrome and to contribute to the outline of the disease.METHODS: Case report.RESULTS: The clinical signs of a patient with the Coffin-Lowry syndrome are described and discussed.CONCLUSIONS: The Coffin-Lowry syndrome, a X-linked genetic disease, is probably underdiagnosed in Brazil. The typical facies, dental-skeletal anomalies and mental retardation suggest the diagnosis, which can be clinically established by radiographic study of the hands.
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