[A case of Lobstein's osteopsathyrosis].
The observation of a 19-year-old patient with blue sclera, hypoacusis and osteofragility (with 13 previous fractures) is presented. In the same family there are other members belonging three generation, with manifestations specific to Lobstein osteopsathyrosis. In the case presented, the heredity was of dominant autosomal type with variable expressivity.
Iordănescu
C
C
Clinica Oftalmologică Constanţa.
Dogan
D
D
Nicolae
S
S
Burnei
D
D
Cioablă
D
D
D000328:Adult; D005260:Female; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant; D006311:Hearing Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D012590:Sclera / Q000002:abnormalities
Consideraţii asupra unui caz de osteopsatiroză Lobstein.