The mouse skeletal mutants: models for the human skeletal dysplasias
Eteson, D.J.; Sillence, D.O.; Lachman, R.S.; Rimoin, D.L.
Progress in Clinical and Biological Research 187: 141-151
1985
ISSN/ISBN: 0361-7742 PMID: 4059229 Document Number: 3301
The genetic disorders of the skeleton in the mouse, as in man, are a heterogeneous group of disorders which manifest as generalized defects of cartilage and/or bone growth and development with resulting disproportionate short stature and abnormal craniofacial growth; and malformations of individual bones resulting in various dysmorphic patterns (Rimoin 1975). In man, these have been delineated by clinical observations, radiographic analysis, morphologic studies, inheritance patterns, and, in some cases, biochemical defects. In 1969, an International Nomenclature of Constitutional Diseases of Bone was developed for the human genetic disorders of the skeleton (Rimoin 1978). Five major divisions were defined: the osteochondrodysplasias, the dysostoses, the idiopathic osteolyses, chromosomal aberrations, and primary metabolic abnormalities. The osteochondrodysplasias, which are those disorders involving abnormalities of cartilage and/or bone growth and development, are divided into: (1) defects of growth of tubular bones and/or spine, (2) disorganized development of cartilage and fibrous components of the skeleton, and (3) abnormalities of density of cortical diaphyseal structure and/or metaphyseal modeling. The dysostoses, those conditions which involve malformation of individual bones singly or in combination, are divided into: (1) those with craniofacial involvement, (2) those with predominant axial involvement, and (3) those with predominant involvement of the extremities.
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