Abstract (English)
 Objective: To report a rare case of thanatophoric skeletal dysplasia type 2 that we diagnosed during prenatal period; and to provide further review dilemmas in diagnostic methods management, based on appropriate literatures guidelines available. 
 Methods: Case report
 Case: A 33-year old primigravida women was with pre-term pregnancy (24th weeks gestation) in...

involves the fibroblast growth-factor receptor 3 gene. Blood 10:4062, 1997 9. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321, 1995 10. Caligaris-Cappio F, Bergui L, Gregoretti MG, Gaidano G, Gaboli M, Schena...

The fibroblast growth factor receptor 3 (FGFR3) gene mutations were identified to be involved in the pathogenesis of most chondropathies. FGFR3 encodes and is regulation bone by limiting ossification long bones. Mutations result abnormal cell proliferation improper cartilage development. We aim provide an overview roles skeletal dysplasia highlighting pathogenesis, clinical variants dysplasia, ...

Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-o...