RESUMEN
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.
Asunto(s)
Anomalías Múltiples/diagnóstico , Huesos Faciales/anomalías , Anomalías Musculoesqueléticas/patología , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Adulto , Anciano , Anciano de 80 o más Años , Cardiomiopatías/genética , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Salud de la Familia , Deformidades del Pie/diagnóstico por imagen , Deformidades del Pie/genética , Deformidades del Pie/patología , Genes Recesivos/genética , Ligamiento Genético , Deformidades de la Mano/diagnóstico por imagen , Deformidades de la Mano/genética , Deformidades de la Mano/patología , Humanos , Articulaciones/anomalías , Articulaciones/patología , Masculino , Persona de Mediana Edad , Hipotonía Muscular , Anomalías Musculoesqueléticas/diagnóstico por imagen , Anomalías Musculoesqueléticas/genética , Linaje , Radiografía , Síndrome , Uruguay , Cromosoma XRESUMEN
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.