Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

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

Pediatric Genetics & Metabolism

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29 Scopus citations

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 Mammel, {Mark C} and M. Coleman and S. Rosemberg and Rodriques, {C. J.} and R. Sibley",

year = "1984",

doi = "10.1002/ajmg.1320190209",

language = "English (US)",

volume = "19",

pages = "265--275",

journal = "American Journal of Medical Genetics",

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TY - JOUR

T1 - Fibrochondrogenesis

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, Mark C

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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U2 - 10.1002/ajmg.1320190209

DO - 10.1002/ajmg.1320190209

M3 - Article

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AN - SCOPUS:0021741918

SN - 0148-7299

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SP - 265

EP - 275

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 2

ER -

Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

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