Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide A L, Maroteaux P, Le Merrer M
Département de Génétique et Unité, de Recherches sur les Handicaps, Génétiques de l'Enfant, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.
Pediatr Radiol. 1998 Oct;28(10):776-80. doi: 10.1007/s002470050464.
Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by bowing of the long bones, camptodactyly, respiratory distress, hyperthermic episodes and early lethality. We report six additional cases of SWS, suggesting that this syndrome is homogeneous. All patients had feeding and swallowing difficulties, respiratory insufficiency, dysmorphic features and radiolucent metaphyses with abnormal trabecular pattern. Recurrent episodes of unexplained fever was the cause of death in almost all cases. Parental consanguinity and recurrence in sibs is highly suggestive of autosomal recessive inheritance.
施图韦-维德曼综合征（SWS）是一种罕见的疾病，其特征为长骨弯曲、屈曲指、呼吸窘迫、体温过高发作和早期致死率。我们报告另外6例SWS病例，提示该综合征具有同质性。所有患者均有喂养和吞咽困难、呼吸功能不全、畸形特征以及具有异常小梁模式的透亮干骺端。几乎所有病例中，不明原因的发热反复发作是死亡原因。父母近亲结婚以及同胞复发强烈提示常染色体隐性遗传。
