Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.
AUTOR(ES)
Somer, H
RESUMO
We report a sibship of a sister and brother with osteoporosis-pseudoglioma syndrome. Several other family members became blind or showed signs of bone involvement. There was considerable consanguinity in the pedigree. The proband was small in size and had prominent skeletal deformities and clinical muscle weakness. These features were not present in her brother, suggesting clinical variability. Mental function was normal in both. Bone histology showed osteopenia. Several biochemical events of procollagen biosynthesis were analysed in fibroblast cultures, but no significant abnormalities compared to control fibroblast cultures were detected.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1080031Documentos Relacionados
- Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.
- Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.
- Alagille syndrome: family studies.
- CLINICAL, MORPHOLOGICAL AND BIOCHEMICAL STUDIES OF A VIRILIZING TUMOR IN THE TESTIS*
- X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.