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. 2000 Jul-Aug;76(4):305-9.
doi: 10.2223/jped.8.

[Coffin-Lowry syndrome]

[Article in Portuguese]
J C Guitti  1 , F F Peres
Affiliations

[Coffin-Lowry syndrome]

[Article in Portuguese]
J C Guitti et al. J Pediatr (Rio J). 2000 Jul-Aug.

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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