Cohen P A, Kalifa G, Donoghue V, Adamsbaum C, Haddad F, Dubousset J
Department of Paediatric Radiology, Hôpital Saint Vincent de Paul, 74-82 avenue Denfert Rochereau, F-75 674 Paris Cedex 14, France.
Pediatr Radiol. 1999 Feb;29(2):131-4. doi: 10.1007/s002470050556.
Kyphoscoliosis is a complication of some bone dysplasias, including cleidocranial dysplasia.
We report a distinct disorder with defective ossification of the ischial rami, severe kyphoscoliosis and normal clavicles. Early recognition of this syndrome allows prevention of complications.
All patient cases (aged 1 day to 33 years) were selected according to the above criteria, with special attention to radiological findings, family history and follow-up (5-30 years).
In all eight patients, we observed the following: (a) Severe thoracic scoliosis of early onset and rapid progression, leading to rotatory dislocation. Spinal cord compression occurred in four cases with respiratory problems related to chest deformity. (b) Bilateral and symmetrical incomplete ossification of the ischial rami. (c) Peculiar facies with retrognathia. (d) Normal clavicles. Three patients were from the same family (grandmother, mother and daughter).
Ischio-vertebral dysplasia seems to represent a true entity, with radiological and genetic findings that make it distinct from cleidocranial dysostosis. The association of kyphoscoliosis and these pelvic abnormalities is specific for this condition. Neurological and respiratory complications can be avoided if the condition is recognised early and early treatment is instituted.
脊柱后侧凸是包括锁骨颅骨发育不全在内的一些骨发育异常的并发症。
我们报告一种独特的疾病，其坐骨支骨化缺陷、严重脊柱后侧凸且锁骨正常。早期识别该综合征可预防并发症。
根据上述标准选取所有患者病例（年龄从1天至33岁），特别关注放射学表现、家族史及随访情况（5 - 30年）。
在所有8例患者中，我们观察到以下情况：（a）早发性且进展迅速的严重胸段脊柱侧凸，导致旋转性脱位。4例出现脊髓受压，并伴有与胸部畸形相关的呼吸问题。（b）坐骨支双侧对称性骨化不全。（c）具有下颌后缩的特殊面容。（d）锁骨正常。3例患者来自同一家族（祖母、母亲和女儿）。
坐骨 - 脊柱发育异常似乎是一种真实存在的疾病，其放射学和遗传学表现使其有别于锁骨颅骨发育不全。脊柱后侧凸与这些骨盆异常的关联是该疾病所特有的。如果能早期识别并尽早治疗，可避免神经和呼吸并发症。
