Sauvegrain J, Dufier J L, Vacher H, Charlot J C, Ho'Ang Phuc L, Haye C
J Radiol. 1981 Oct;62(10):537-43.
Three patients from the same family presented hyaloretinal dysplasia (pseudoglioma) associated with osteoporosis and bone fragility. Results of clinical, ophthalmological, and radiological examinations in these three cases are described, together with those reported in the literature concerning 21 other cases of this rare autosomal-recessive affection.
来自同一家庭的三名患者出现了玻璃体视网膜发育异常(假性胶质瘤),并伴有骨质疏松和骨脆性。本文描述了这三例患者的临床、眼科和放射学检查结果,以及文献中报道的另外21例这种罕见常染色体隐性疾病的病例结果。