Maroteaux P, Cohen-Solal L, Bonaventure J, Peter M O, Francannet C, Guibaud P, Moraine C
Unité de Recherches de Génétique Médicale (INSERM U 12), Hôpital des Enfants-Malades, Paris.
Arch Fr Pediatr. 1988 Aug-Sep;45(7):477-81.
The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.
作者报告了来自六个不同家庭的六例患有骨干狭窄和肋骨纤细的致死性脆性骨病病例。这种表型应与成骨不全的致死形式区分开来，它包含两种疾病。第一种是常染色体隐性疾病，长骨的干骺端狭窄，有膜内成骨，没有软骨残留。培养的成纤维细胞显示Ⅴ型胶原显著增加。第二种类型中，干骺端增大，婴儿有面部畸形，伴有眉毛发育不全、额部隆突和小嘴。
