Results 141 to 150 of about 1,854 (192)

The Genetic Basis of the Osteochondrodysplasias

Journal of Pediatric Orthopaedics, 2000
The osteochondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth and remodeling of cartilage and bone, affecting from 2 to 4.7 per 10,000 individuals. Most osteochondrodysplasias are heritable and many have elaborate patterns of genetic transmission.
A C, Baitner, S G, Maurer, M B, Gruen, P E, Di Cesare   +3 more
exaly   +3 more sources

Osteochondrodysplasias

Clair A Francomano
exaly   +4 more sources

Osteochondrodysplasias

2019
Jad G Sfeir
exaly   +2 more sources

Blomstrand lethal osteochondrodysplasia

American Journal of Medical Genetics, 1996
We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia. Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity.
Leroy, Jules G., Keersmaeckers, Guy, Coppens, Mieke, Dumon, Jan, Roels, Hendrik   +4 more
openaire   +3 more sources

International classification of osteochondrodysplasias

European Journal of Pediatrics, 1992
Judith G Hall
exaly   +2 more sources

Mucopolysaccharides in osteochondrodysplasias

Clinical Genetics, 1979
Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita.
G L, Francis, E, Feng, O M, Rennert
openaire   +2 more sources

The Lethal Osteochondrodysplasias

1990
Achondrogenesis was first described in 1936 by Parenti (1936). Lethal cases of osteogenesis imperfecta have been known since Vrolik’s (1849) description. Achondroplasia (formerly chondrodystrophy) was the only other diagnosis for all other dwarfed newborns until thanatophoric dysplasia was recognized as a separate entity (Maroteaux et al., 1967).
J, Spranger, P, Maroteaux
openaire   +2 more sources

Osteochondrodysplasia in Fryns Syndrome

Archives of Pediatrics & Adolescent Medicine, 1991
Various skeletal abnormalities have been identified in roentgenograms of persons with Fryns syndrome, but to our knowledge, no histopathologic description of bone or cartilage has been published. We describe disordered endochondral and intramembranous bone formation in a premature female infant with Fryns syndrome.
M M, Kershisnik, C M, Craven, A L, Jung, J C, Carey, A S, Knisely   +4 more
openaire   +2 more sources

Osteochondrodysplasia in Scottish Fold cats

Australian Veterinary Journal, 1999
ObjectiveTo better characterise the bone and joint problems which can develop in Scottish Fold cats.DesignRetrospective study of cases seen in five veterinary clinics and radiographic survey of cats in a cattery.ResultsSix Scottish Fold cats (four castrated males, two spayed females) aged between 5 months and 6 years were presented for signs of ...
R, Malik, G S, Allan, C R, Howlett, D E, Thompson, G, James, C, McWhirter, K, Kendall   +6 more
openaire   +2 more sources

Osteochondrodysplasias in South Africa

American Journal of Medical Genetics, 1996
Jürgen Spranger's visit to the University of Cape Town in 1974 provided impetus for the establishment of a bone dysplasia registry. By 1996 more than 2,500 affected persons had been documented and radiographs and DNA had been obtained in many instances.
openaire   +2 more sources