title: The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings.
abstract: Two siblings (male, 29 years, and female, 13 years) with the rate autosomal recessive osteoporosis pseudoglioma syndrome are reported in detail. All essential signs and symptoms of the full clinical picture were present and are documented by impressive X-ray pictures. Some aspects of our patients are compared with relevant findings of previous reports. Collagen studies (skin biopsies) failed to reveal any significant disorder of the main collagen types composition. Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos syndrome) suggest, however, that the OPS could be a primary collagen disorder. Genetic counselling and devoted socio-medical care for these handicapped children is presently the only help which can be offered.
authors.affiliation: Ludwig Boltzmann Institute for Paediatric Endocrinology, Vienna, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Swoboda
authors.forename: F
authors.initials: F
authors.lastname: Grill
mesh_terms: D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012867:Skin / Q000473:pathology; D013577:Syndrome