Literature DB >> 186383

Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis.

S S Yang, K P Heidelberger, J Bernstein.   

Abstract

Lethal achondrogenesis in the past has been frequently confused with achondroplasia. Clinical and radiologic advances in the last decade have led to clear differentiation of this condition from other types of bone dysplasia. It is further separated into two types on the basis of radiographic and pathologic findings. Re-evaluation of the histologic features has led to the recognition of heretofore unrecognized intracytoplasmic inclusion bodies in the chondrocytes of type 1 achondrogenesis. The finding of inclusions strengthens the differentiation of the two types and may have implications for the pathogenesis of the form of chondrodystrophy.

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Year:  1976        PMID: 186383     DOI: 10.1016/s0046-8177(76)80078-0

Source DB:  PubMed          Journal:  Hum Pathol        ISSN: 0046-8177            Impact factor:   3.466


  7 in total

Review 1.  Achondrogenesis type 1B.

Authors:  A Superti-Furga
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

2.  A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.

Authors:  A Superti-Furga
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

3.  Achondrogenesis type I: light and electron-microscopic studies.

Authors:  G Molz; M A Spycher
Journal:  Eur J Pediatr       Date:  1980-06       Impact factor: 3.183

4.  Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino).

Authors:  H D Dorfman; J Lorenzo
Journal:  Skeletal Radiol       Date:  1980       Impact factor: 2.199

5.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

6.  A new type of lethal short-limbed dwarfism.

Authors:  E R Nairn; S Chapman
Journal:  Pediatr Radiol       Date:  1989

7.  Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Authors:  Sara Vanegas; Luz Fernanda Sua; Jaime López-Tenorio; Diana Ramírez-Montaño; Harry Pachajoa
Journal:  Appl Clin Genet       Date:  2018-05-25
  7 in total

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