Key result
A novel X-linked recessive disorder, termed Uruguay facio-cardio-musculo-skeletal syndrome, was identified in a single family, characterized by cardiomyopathy, muscular hypertrophy, and skeletal deformities.
Case Report (n=3)
Describes a novel X-linked recessive disorder involving cardiomyopathy and musculoskeletal deformities.
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Alerts clinicians to a possible novel X-linked cardiomyopathy syndrome; leaves open its prevalence and genetic basis pending validation.
We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.
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Quadrelli et al. (2000) conducted a case report in Uruguay facio-cardio-musculo-skeletal syndrome (n=3). X-linked recessive genetic mutation was evaluated on Clinical characteristics of the syndrome. A novel X-linked recessive disorder, termed Uruguay facio-cardio-musculo-skeletal syndrome, was identified in a single family, characterized by cardiomyopathy, muscular hypertrophy, and skeletal deformities.
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