Osteoporosis-pseudoglioma syndrome.
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.
De Paepe
A
A
Department of Medical Genetics, University Hospital Gent, Belgium.
Leroy
J G
JG
Nuytinck
L
L
Meire
F
F
Capoen
J
J
D000293:Adolescent; D001766:Blindness / Q000209:etiology; D003094:Collagen / Q000378:metabolism; D003240:Connective Tissue Diseases / Q000151:congenital* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005910:Glioma / Q000151:congenital* / Q000175:diagnosis; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000151:congenital* / Q000175:diagnosis; D010024:Osteoporosis / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology; D012867:Skin / Q000473:pathology; D013577:Syndrome
D003094:Collagen