[Osteoporosis pseudoglioma syndrome].
The author reports on two affected siblings with a very rare not yet published congenital syndrome in Hungary. Only thirty-eight patients have been reported in the literature. The syndrome is probably a genetic disorder of connective tissue with autosomal recessive transmission. The author draws attention that the knowledge of the two main components (generalised osteoporosis and blindness) of the syndrome can help in its correct diagnosis.
Fábián
K
K
Borsod-Abaúj-Zemplén megyei Kórház-Rendelointézet, Miskolc.
D001766:Blindness / Q000209:etiology; D002648:Child; D005134:Eye Neoplasms / Q000150:complications / Q000235:genetics*; D005260:Female; D005910:Glioma / Q000150:complications / Q000235:genetics*; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000235:genetics*; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*; D013577:Syndrome