遗传性多发性骨软骨瘤的影像学分析

目的：研究遗传性多发性骨软骨瘤（HMO）影像特点。方法：分析经病理证实不同年龄、不同部位的56例HMO影像及家族史。结果：58例HMO疾病患者中,男38例,女20例,其中胫骨及股骨多发,并且对称存在18例,双手及腕关节次之10例,肱骨4例．尺桡骨9例,肋骨3例,骨盆9例,肩胛骨7例;跟骨部位1例。结论：遗传性多发性骨软骨瘤是一种常见的骨良性肿瘤,以股骨下端和胫骨上端好发,其次为长骨端,其有典型遗传倾向,瘤骨发生部位具有家族倾向性。     

Chromosome deletion and multiple cartilaginous exostoses

We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthday     

Anatomical observations of spurs of the tuber ischiadicum

Summary In a study of 101 human pelves, 8 pelves (only males) were found with ossification in the area of the ligamentum sacrotuberale. Seven of these showed a characteristic and similar morphology and could be considered to be periosteal exostoses. The term spur of the tuber ischiadicum is proposed for this manifestation. There was a single case of metaplastic ossification, possibly of traumatic origin. Hence, not all ossifications in the area of the ligamentum sacrotuberale can summarily be classified as a spur of the tuber ischiadicum; careful discrimination is essential in every case.

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Observations anatomiques de spicules de la tubérosité ischiatique

Résumé Lors de l'étude de 100 bassins humains, 8 bassins, tous masculins, présentaient des ossifications à la place du ligament sacrotubéral. 7 d'entre elles avaient une morphologie caractéristique identique et ont pu être considérées comme des exostoses périostées. Le terme de spicule de la tubérosité ischiatique est proposé pour cette manifestation. Il y a un seul cas d'ossification métaplasique, dont l'origine traumatique est possible. Cependant toutes les ossifications siègeant à la place du ligament sacro-tubéral ne peuvent être étiquetées comme des spicules de la tubérosité ischiatique ; une discrimination soigneuse est essentielle dans chaque cas.

     

The tricho-rhino-phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?

Critical cytogenetic (re)evaluation of 2 of our own cases of tricho-rhino-phalangeal syndrome II (TRP II), or Langer-Giedion syndrome (LGS), and 10 cases from the literature, suggests that the shortest region of overlap of the 8q deletion is a part of band q24. 1. This region is assumed to be causally related to this syndrome, and possibly also to TRP I syndrome which, therefore, may not be a causally separate entity.     

Pitfalls in paediatric gait disturbances

Introduction We describe three boys who were referred for neurological work-up of a tottering gait and in whom we diagnosed bone diseases, namely, Camurati-Engelmann disease, cartilaginous exostoses and a stress fracture as the underlying causes for the gait-disturbances.Conclusion “Non-neurologic disorders” must be considered even if pain is not a leading symptom in gait disturbances.     

利用上颌窦底壁骨嵴和骨突进行种植体植入的方法研究

目的研究并评价将种植体尖端安全准确植入上颌窦底壁骨嵴和骨突内的方法。方法 8例上颌后牙缺失、可用骨高度不足种植义齿修复需要的患者,其中男5例,女3例,年龄46.4±12.8岁,经CT扫描三维重建确定每例患者缺牙间隙上方均伴有上颌窦底壁骨嵴和骨突,并且这些骨嵴和骨突符合基底部宽度大于5mm、近中或远中斜面与上颌窦底壁夹角小于70°的纳入标准。利用快速成型技术制造缺牙区树脂模型,实施模型手术将种植体尖端准确定位在骨嵴和骨突内,制作手术导板,并完成患者口内的种植导航手术。术后即刻CT扫描分析种植体尖端与骨嵴和骨突的关系,观察上颌窦底黏膜是否完整。结果种植体植入位置与模型手术相符,8颗种植体尖端2~5mm部分成功进入上颌窦底壁骨嵴和骨突内,并在骨嵴的近中斜面或远中斜面突破骨皮质,种植体尖端部分一侧位于上颌窦底壁骨嵴内,一侧位于上颌窦腔黏膜下方。种植体初期稳定性好,上颌窦底黏膜完整。结论上颌窦底壁骨嵴和骨突能为上颌后牙缺失骨量不足的患者提供必要的可用骨高度,从而获得足够的种植体稳定性。要将种植体尖端准确安全地植入到骨嵴和骨突内,需要CT扫描三维重建进行骨嵴和骨突的选择及准确定位、模型手术和手术导板制作、导板辅助的种植手术、上颌窦底开孔钻的使用等步骤的严密配合。     

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses

Hereditary multiple exostoses (EXT) is an autosomal dominant bone disease characterized by the formation of cartilage‐capped prominences. EXT is genetically heterogeneous with at least four chromosomal loci. Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been cloned. Previous studies have shown that disease‐type‐specific frequency of mutations is different among various ethnic populations. To determine those frequencies in the Japanese, we conducted a large‐scale mutation screening on both genes. In 23 of 43 Japanese families examined, we found 21 different mutations, of which 18 are novel. Seventeen (40%) of the 23 families had a mutation in EXT1 and six (14%) had a mutation in EXT2, suggesting that the former mutations are more frequent than the latter in Japanese EXT families. Of the 17 families with EXT1 mutations, 13 had those causing premature termination of the EXT1 protein and four showed missense mutations, whereas five of the six families with EXT2 mutations had those causing premature termination and one showed missense mutation. Interestingly, all four EXT1 missense mutations occurred in an arginine residue at codon 340 (R340) that is known as a critical site for expression of heparan sulfate glycosaminoglycans, suggesting that the region encompassing the arginine residue may play an important role in the function of the EXT1 protein. These results expand our knowledge of the ethnic difference of EXT and the structure‐function relationship of the EXT genes. © Wiley‐Liss. Inc.     

Acute popliteal pseudoaneurysm rupture secondary to distal femoral osteochondroma in a patient with hereditary multiple exostoses

A 21-year-old man with known hereditary multiple exostoses presented with a 24-hour history of atraumatic bruising and swelling of the posterior thigh. A leaking popliteal pseudoaneurysm was diagnosed on ultrasonography and an emergency saphenous vein bypass graft procedure performed. The patient required a post-operative blood transfusion but otherwise made a full recovery. Vascular complications from osteochondromas are rare and include vessel displacement, stenosis, occlusion, arteriovenous fistulas and pseudoaneurysm formation. Pseudoaneurysms usually present as an enlarging mass behind the knee. Acute rupture of an occult popliteal pseudoaneurysm caused by a distal femoral exostosis has not been reported previously.     

遗传性多发性骨软骨瘤研究进展

遗传性多发性骨软骨瘤是一种常染色体显性遗传性疾病,主要表现为多发的、位于四肢长骨干骺端或扁骨表面的、由软骨帽覆盖的良性肿瘤。由于肿瘤可干扰正常骨骺的生长导致骨骼畸形,患者大多身材矮小、肢体力线异常以及功能障碍。目前研究发现,EXT基因突变与软骨瘤的形成有关,EXT基因参与硫酸乙酰肝素的合成,突变基因将导致软骨分化异常。文章综述遗传性多发性骨软骨瘤的临床症状、病理生化机制、基因型和表型相关性以及治疗方法等方面的研究进展。