Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

C. B. Whitley; L. O. Langer; J. Ophoven; E. F. Gilbert; C. H. Gonzalez; M. Mammel; M. Coleman; S. Rosemberg; C. J. Rodriques; R. Sibley

doi:10.1002/ajmg.1320190209

Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

C. B. Whitley, L. O. Langer, J. Ophoven, E. F. Gilbert, C. H. Gonzalez, M. Mammel, M. Coleman, S. Rosemberg, C. J. Rodriques, R. Sibley

Pediatrics - Genetics and Metabolism

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Abstract

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 the differential diagnosis.

Original language	English (US)
Pages (from-to)	265-275
Number of pages	11
Journal	American Journal of Medical Genetics
Volume	19
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.1320190209
State	Published - 1984

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title = "Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology",

abstract = "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 the differential diagnosis.",

author = "Whitley, {C. B.} and Langer, {L. O.} and J. Ophoven and Gilbert, {E. F.} and Gonzalez, {C. H.} and M. Mammel and M. Coleman and S. Rosemberg and Rodriques, {C. J.} and R. Sibley",

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T2 - Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

AU - Whitley, C. B.

AU - Langer, L. O.

AU - Ophoven, J.

AU - Gilbert, E. F.

AU - Gonzalez, C. H.

AU - Mammel, M.

AU - Coleman, M.

AU - Rosemberg, S.

AU - Rodriques, C. J.

AU - Sibley, R.

PY - 1984

Y1 - 1984

N2 - 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 the differential diagnosis.

AB - 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 the differential diagnosis.

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

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ER -

Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

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