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Case Reports
. 1998;25(4):149-50.

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

M A Yüce  1 , T Yardim, M Kurtul, S Durukan, F Gücer
Affiliations
  • PMID: 9987576
Case Reports

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

M A Yüce et al. Clin Exp Obstet Gynecol. 1998.

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.

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