Demonchy A, Valat J P, Neveur C A, Le Chevallier P L
Nouv Presse Med. 1978 Sep 23;7(32):2849-51.
Generalised cortical hyperostosis, a case of which is reported here, was distinguished from other condensing osteopathies by Van Buchem in 1955. It is characterised by a fairly special facial dysmorphia, associated with osteocondensation of the skull, spine, flat bones and the cortex of the long bones of the limbs. There is a form with recessive transmission, which is usually associated with cranial nerve involvement by compression, and alkaline hyperphosphatasemia, whilst in the form with dominant transmission these abnormalities are not usually present. By contrast, there is often a palatal torus. A case appeared to share features of both forms. The prognosis is usually favourable, in contrast to that of osteopetrosis, a condition with which it is often confused.
全身性皮质增生症,本文报告了其中一例,1955年由范·布赫姆将其与其他致密性骨病区分开来。其特征是一种相当特殊的面部畸形,伴有颅骨、脊柱、扁骨和四肢长骨皮质的骨质致密。有一种隐性遗传形式,通常伴有因压迫导致的脑神经受累和碱性磷酸酶血症,而在显性遗传形式中,这些异常通常不存在。相比之下,常出现腭隆突。有一例似乎兼具两种形式的特征。与常与之混淆的骨质石化症不同,其预后通常良好。