Bedford C D, Sills J A, Sommelet-Olive D, Boman F, Beltramo F, Cornu G
Royal Liverpool Children's Hospital, England.
J Pediatr. 1991 Sep;119(3):404-10. doi: 10.1016/s0022-3476(05)82053-0.
Two unrelated children with a severe form of juvenile hyaline fibromatosis are described. In addition to painful flexion contractures of all of the large joints, oral and skin lesions, and typical radiologic appearance of osteolytic defects, both girls had marked growth retardation and recurrent infections. Both children died in early infancy of overwhelming infection.
本文描述了两名患有严重型幼年透明纤维瘤病的非亲缘关系儿童。除了所有大关节出现疼痛性屈曲挛缩、口腔和皮肤病变以及溶骨性缺损的典型放射学表现外，这两名女孩均有明显的生长发育迟缓及反复感染。两名儿童均在婴儿早期死于严重感染。
