Literature DB >> 14613694

[Metatropic dysplasia: two cases in siblings].

N Ech-Cherif El Kettani1, L Chat, A Najid, R Dafiri.   

Abstract

Metatropic dwarfism is a rare heritable skeletal dysplasia. We report on two brothers, 4-month-old and 9-year-old, affected by the disease. Clinical and radiological features of the disease at different ages are discussed. Prenatal diagnosis is possible by ultrasonography. No treatment is available. Prevention by genetic counselling remains the principal possible assistance to high risk families.

Entities:  

Mesh:

Year:  2003        PMID: 14613694     DOI: 10.1016/j.arcped.2003.08.008

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  1 in total

1.  Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.

Authors:  Michele A Tchio Tchoumba; Yan Bai; Runming Jin; Xianying Yu; Musa Male
Journal:  Orthop Surg       Date:  2019-12-06       Impact factor: 2.071

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.