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Mucopolysaccharides in osteochondrodysplasias
Clinical Genetics, 1979Mucopolysaccharide (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
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Articular Degeneration as a Sequela of Osteochondrodysplasias
Clinics in Rheumatic Diseases, 1985Víctor Stanescu +2 more
exaly +3 more sources
Osteochondrodysplasia in Fryns Syndrome
Archives of Pediatrics & Adolescent Medicine, 1991Various 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 +4 more
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The Lethal Osteochondrodysplasias
1990Achondrogenesis 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
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Blomstrand lethal osteochondrodysplasia
American Journal of Medical Genetics, 1996We 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. +4 more
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