Genetic heterogeneity in osteogenesis imperfecta.
TLDR
An epidemiological and genetical study of osteogenesis imperfecta in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI, and the largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae.Abstract:
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.read more
Citations
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Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.
TL;DR: In children with severe osteogenesis imperfecta, cyclic administration of intravenous pamidronate improved clinical outcomes, reduced bone resorption, and increased bone density.
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Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman,Valérie Cormier-Daire,Christine Hall,Deborah Krakow,Deborah Krakow,Ralph S. Lachman,Martine Lemerrer,Geert Mortier,Stefan Mundlos,Gen Nishimura,David L. Rimoin,Stephen P. Robertson,Ravi Savarirayan,David Sillence,J. Spranger,Sheila Unger,Sheila Unger,Bernhard Zabel,Andrea Superti-Furga,Andrea Superti-Furga +19 more
TL;DR: The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene.
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International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.
Peter Beighton,A. De Paepe,David M. Danks,G. Finidori,T. Gedde-Dahl,R. M. Goodman,Judith G. Hall,David W. Hollister,William A. Horton,Victor A. McKusick,John M. Opitz,F. M. Pope,Reed E. Pyeritz,David L. Rimoin,David Sillence,J. Spranger,Elizabeth Thompson,Petros Tsipouras,Denis Viljoen,Ingrid Winship,I. D. Young,James F. Reynolds +21 more
TL;DR: A group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986 as discussed by the authors, where overviews were given of the uses and limitations of nosology, diagnostic criteria (Pyeritz), and practical issues in biochemical and molecular diagnosis.
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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini,Antonella Forlino,Antonella Forlino,Wayne A. Cabral,Aileen M. Barnes,James D. San Antonio,Sarah A. Milgrom,James C. Hyland,Jarmo Körkkö,Darwin J. Prockop,Anne De Paepe,Paul Coucke,Sofie Symoens,Francis H. Glorieux,Peter J. Roughley,Alan M. Lund,Kaija Kuurila-Svahn,Heini Hartikka,Daniel H. Cohn,Deborah Krakow,Monica Mottes,Ulrike Schwarze,Diana Chen,Kathleen Yang,Christine D Kuslich,James Troendle,Raymond Dalgleish,Peter H. Byers +27 more
TL;DR: The data on genotype–phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events.
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New perspectives on osteogenesis imperfecta.
TL;DR: Clinical management of osteogenesis imperfecta is multidisciplinary, encompassing substantial progress in physical rehabilitation and surgical procedures, management of hearing, dental and pulmonary abnormalities, as well as drugs, such as bisphosphonates and recombinant human growth hormone.
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Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta
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