Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long‐bone metaphyses, pear‐shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chond...

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Veröffentlicht in:American journal of medical genetics 1984-10, Vol.19 (2), p.265-275
Hauptverfasser: Whitley, Chester B., Langer Jr, Leonard O., Ophoven, Janice, Gilbert, Enid F., Gonzalez, Claudette H., Mammel, Mark, Coleman, Michael, Rosemberg, Sergio, Rodriques, Consuelo J., Sibley, Richard, Horton, William A., Opitz, John M., Gorlin, Robert J.
Format: Artikel
Sprache:eng
Schlagworte:
autosomal recessive inheritance
Biological and medical sciences
Cartilage - pathology
Diseases of the osteoarticular system
Female
fibroblastic dysplasia of chondrocytes
fibrochondrogenesis
Genes, Lethal
Genes, Recessive
Growth Plate - ultrastructure
Humans
Infant, Newborn
lethal chondrodysplasia
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Osteochondrodysplasias - pathology
Radiography
skeletal dysplasia
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Beschreibung
Zusammenfassung:Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long‐bone metaphyses, pear‐shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well‐documented cases of this apparently autosomal recessive disorder and discuss differential diagnosis.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320190209