Results 1 to 10 of about 1,547 (171)
Genetics and Molecular Biology, 1998 Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families.
Brunoni, Decio +14 more
exaly +4 more sources
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.
Paul E Di Cesare
exaly +4 more sources
American Journal of Medical Genetics, Part A, 2008 The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis.
Deborah Krakow +2 more
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 +3 more sources
International classification of osteochondrodysplasias
European Journal of Pediatrics, 1992 A Giedion +2 more
exaly +3 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 +3 more sources
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population
Birth Defects Research Part A: Clinical and Molecular Teratology, 2003 Define the pattern and birth prevalence of the different types of osteochondrodysplasias in newborn infants in the United Arab Emirates (UAE) population, which is highly inbred and where termination of pregnancy is not accepted. METHODS: All infants with
Abdulbari Bener, Rengasamy Padmanabhan
exaly +2 more sources
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Cell, 1995 Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis.
Miikka Vikkula +2 more
exaly +1 more source