The Chondrodystrophies

Rimoin, David L.

doi:10.1007/978-1-4615-9068-2_1

Cited by 80 publications

(37 citation statements)

References 144 publications

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“…The name was changed at the Second International Conference for Nomenclature for Constitutional Disease of Bone, Paris, 1977) is a generalized disorder of connective tissue characterized by short trunked dwarfism, flat round facies, cleft palate, myopia, and joint limitation (9). Because of the multisystem involvement, a defect in a common connective tissue component, such as collagen, proteoglycan or glycosaminoglycan (GAG), must be considered.…”

Section: Speculationmentioning

confidence: 99%

Kniest Dysplasia. A Histochemical Study of the Growth Plate

Horton

Rimoin

1979

Pediatr Res

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Section: Speculationmentioning

confidence: 99%

Kniest Dysplasia. A Histochemical Study of the Growth Plate

Horton

Rimoin

1979

Pediatr Res

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“…Diastropic dwarfism is a generalized disorder of cartilage (7,14). Cartilagenous abnormalities occur in the endochondral growth plate cartilage, resulting in short stature and skeletal deformities; in the joints, producing degenerative arthritis and premature calcification of costal cartilage; in the trachea, resulting in tracheomalacia, and in the ear, leading to "cauliflower ear."…”

Section: Speculationmentioning

confidence: 99%

Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate

et al. 1979

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Summaryfrom five individuals, 7-to 14-years-old with well-documented Chondro-osseous tissue from five patients with diastro~ic dwarfisnl was studied by histologic, histochemical, and electron microscopic methods. The major abnormalities observed were: 1) irregular distribution of chondrocytes undergoing degeneration in the resting cartilage; 2) abnormal distribution of collagen in the resting cartilage; 3) a spectrum of fibrous matrix lesions in the resting cartilage which ranged from focal areas of aggregated collagen fibrils to large cystic lesions in which intracartilagenous ossification occurred; and 4) shortened, irregular cellular columns within the growth plate which were occasionally disrupted by matrix lesions extending from the resting cartilage. These alterations in chondro-osseous morphology have not been observed in any of the other skeletal dysplasias examined to date and appear to be pathognonlonic for this disorder.

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“…Inherited achondroplasia has been reported in a wide variety of vertebrates, including man (Rimoin, 1970(Rimoin, , 1975Maroteaux and Lamy, 1964). While the bases of dwarfism differ from mutant to mutant, the gross morphological manifestation is similar (Hall, 1978 In the achondroplastics, the hypertrophic zone was always less thick and had a smaller number of cells ( fig.…”

Section: Introductionmentioning

confidence: 99%