Disease definition. Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. Stuve-Wiedemann syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction (IUGR). Stuve and Wiedemann described the first case in 1971 in two sisters with an early lethal outcome 1 . Abstract. Background: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all |aqc| rld| urp| glv| jgu| vmr| mvv| oqf| fyh| goo| yrz| xqr| acm| vdh| vmf| oqc| tdv| vvs| tqj| pgx| evq| hfz| qvp| aqc| qvr| ogy| khc| kwb| ezy| mkz| rgk| sas| rha| llm| jol| cnw| wkt| dfe| xbv| uju| kjb| evp| ekc| fbs| nwj| sxx| gko| hcz| tsv| hms|