【摘要】 本文报告两个家族8例晚发型脊椎骨骺发育不良性疾病,系伴性隐性遗传,仅累及男性发病。临床为智力正常的短躯干型侏儒(大多在6～14岁发病),列举了具有X 线特征的脊椎“三凹状骨中骨”及倒“U”形髂骨翼骨性改变,对包括髋关节在内的骨盆骨骺发育不良系列性表现做了扼要阐述。作为晚发型脊椎骨骺发育不良表现之一的股骨头无菌坏死比一般无菌坏死要严重,并对脊椎、骨盆、股骨头形态改变的原因做了初步探讨。文章还根据椎体前后径延长等讨论了与 Morquio 及 Scheu—ermann 氏病等的鉴别诊断。更多还原

【Abstract】 It is reported that in two families there are eight cases of spondyloepiphysial tarda.The disease is of sex-linked recessive inheritan- ce and only involves the males.The clinical features are characterized by dwarfism (mostly beginning at the age of 6～14 years old),and yet by normal intelligence.The changes are represented about the“trisu- nken shaped bone inside bone”of the vertebrae,as well as the inver- ted“U”shape of ala ossis ilium.A series of manifestations of dysp- lasia of the pelvic epiphpysia,including the hip joints,are also represe- nted Aseptic necrosis of femoral heads,as one of the features appeared in spondyloepiphysial dysplasia tarda,is more serious than simple ase- ptic necrosis of the femoral heads.The causes of morphogjcal changesl of the vertebrae,pelvis and femoral heads are discussed The differentia diagnosis between the disease and Morquie’s and Sheuermann’s disease is also is also discussed according to the extensi on of the anteropost- erior diameter of the vertebrae.更多还原