Literature DB >> 9987576

Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report.

M A Yüce1, T Yardim, M Kurtul, S Durukan, F Gücer.   

Abstract

Thanatophoric dwarfism is a lethal, rare osteochondrodysplasia and results from mutations on the fibroblast growth factor receptor 3 (FBGFR3) gene, on the short arm of chromosome 4. In this paper, we present a case of thanatophoric dwarfism diagnosed in the 18th pregnancy week.

Entities:  

Mesh:

Year:  1998        PMID: 9987576

Source DB:  PubMed          Journal:  Clin Exp Obstet Gynecol        ISSN: 0390-6663            Impact factor:   0.146


  1 in total

1.  Skeletal Defect at Mid-trimester Ultrasound Scan.

Authors:  Pedro Brandão; Elisa Soares; Catarina Estevinho; Marília Freixo; Ana Sofia Portela-Carvalho; Maria João Ferreira
Journal:  J Med Ultrasound       Date:  2018-05-25
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.