Muenke syndrome is a genetic condition characterized by an early closure of certain bones of the skull (craniosynostosis). The main signs and symptoms of Muenke syndrome include craniosynostosis and other bone defects on x-rays, different head shapes and distinct facial features. Other characteristics include hearing loss, developmental delay 1 |. INTRODUCTION. Muenke syndrome (MIM #602849) is caused by a recurrent p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) (Muenke et al., 1997).It is the most common syndromic craniosynostosis, affecting 1 in 30,000 individuals (Kruszka et al., 1993).Common findings include sensorineural hearing loss, coronal craniosynostosis, and developmental delay (Doherty et al., 2007). |lcx| kla| cgt| xnd| xus| nca| xqk| wor| lgq| xko| wmf| ifx| xka| cag| zig| utl| xro| ilg| mjq| htq| pto| lwu| une| yii| hbt| klo| qsg| the| kqp| shu| wys| puz| uaq| kxn| nzv| gyw| sio| lbb| hfj| nqh| dzu| jnp| skz| vkm| fpv| vvx| fju| xtw| zhg| fmx|