Literature DB >> 3071136

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.

M I Evans1, I E Zador, F Qureshi, H Budev, M H Quigg, H L Nadler.   

Abstract

In a family at risk for Langer mesomelic dwarfism, we document the onset of disproportionate growth in the second trimester by sonographic biometry. Midtrimester pathologic correlation of this condition demonstrates primary changes in the growthplate in the regions of proliferating cartilage and hypertrophic and degenerative chondrocytes.

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Year:  1988        PMID: 3071136     DOI: 10.1002/ajmg.1320310426

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Authors:  Verónica Barca-Tierno; Miriam Aza-Carmona; Eva Barroso; Damia Heine-Suner; Dimitar Azmanov; Jordi Rosell; Begoña Ezquieta; Lucia Sentchordi Montané; Teresa Vendrell; Jaime Cruz; Fernando Santos; José Ignacio Rodríguez; Jesús Pozo; Jesús Argente; Luba Kalaydjieva; Ricardo Gracía; Angel Campos-Barros; Sara Benito-Sanz; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

Review 2.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

  2 in total

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