De Paepe A, Leroy J G, Nuytinck L, Meire F, Capoen J
Department of Medical Genetics, University Hospital Gent, Belgium.
Am J Med Genet. 1993 Jan 1;45(1):30-7. doi: 10.1002/ajmg.1320450110.
Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents. The first patient, a 17-year-old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years. The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition. Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles.
本文描述了两名患有骨质疏松假性胶质瘤综合征的患者。两人均为独生子女，其父母非近亲结婚且身体健康。第一名患者是一名17岁女孩，自出生起就有严重视力障碍。她严重侏儒化，有严重的骨骼畸形，自2岁起就无法行走。第二名患者是一名18岁女孩，有单侧先天性失明、身材矮小和畸形，主要是骨盆和下肢畸形。到目前为止，她在有人扶持的情况下还能行走。这两名患者的临床和影像学表现反映了该疾病的临床变异性。两名患者的胶原蛋白研究结果均正常，这使其与它所类似的严重成骨不全症明显区分开来。
