Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

Objetivo: Analizar la utilidad del trabecular bone score (TBS) en adultos con osteogénesis imperfecta (OI) y su relación variables clínicas, antropométricas densitométricas, especialmente presencia de fracturas severidad enfermedad.

Teeth fragments from members of a family clinically and genetically diagnosed as having amelogenesis imperfecta were studied by scanning electron microscopy and X-ray microprobe analysis to establish the morphological patterns and the quantitative concentration of calcium in the enamel of anterior (canine, incisor) and posterior (premolar and molar) teeth. The prism patterns in the enamel of te...

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a c...

Osteogenesis imperfecta (O.I.) is a genetic disorder with increased bone fragility and low bone mass. We report the history of a 17-year-old male patient with O.I. who presented a fracture of his left femoral shaft. He had osteogenesis imperfecta type I A according to Silence. He had presented two years previously an ipsilateral cervical fracture of the femur which had healed. Intramedullary fi...

BACKGROUND Osteogenesis imperfecta is associated with susceptibility to connective tissue damage, including intracranial but usually extra-axial hemorrhage. Plasminogen activator inhibitor-1 deficiency is a rare fibrinolytic cause of systemic bleeding diathesis. OBJECTIVE To describe a case of a brainstem intraparenchymal hemorrhage associated with connective tissue and coagulation disorders....

Histomorphometric analysis was performed on transiliac undecalcified bone biopsies taken from eight adults and four children with osteogenesis imperfecta. Double tetracycline labelling done before the biopsy allowed measurement of the calcification rate in 11 patients. The adults, as well as the children, had thin iliac cortices and considerably decreased trabecular bone volume. In addition, th...