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  • Title: [Fatal cardiac complications in a child operated on for severe scoliosis with a Coffin-Lowry syndrome. Apropos of a case].
    Author: Charles S, Passuti N, Rogez JM, David A.
    Journal: Chir Pediatr; 1988; 29(1):36-8. PubMed ID: 3396137.
    Abstract:
    The Coffin-Lowry is characterized by mental retardation, characteristic facies and hands, and skeletal changes. Discovery of two others brothers presenting vertebral curvature and suffering from the same syndrome led to a familial investigation which allowed the making of an inventory of six members affected in this family. Only subjects with characteristic fingers were included because according to Lowry this anomaly is necessary to assert the Coffin-Lowry syndrome. The series is quite interesting because this is the greatest of Lowry with five cases. The authors emphasize the importance of a detailed preoperative cardiac exploration to search for cardiomyopathy the existence of which in Coffin-Lowry syndrome was never noted before.
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