Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results

Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review

“…In contrast, type-2 TD is caused by a single recurrent mutation (p.Lys650Glu) [8,9]. With the advent of molecular technology, Sawai et al [10] first described the prenatal diagnosis of TD by mutational analysis of the FGFR3 gene following amniocentesis. We also detected an p.Arg248Cys mutation (c.742C>T), which is the most common mutation of type-1 TD.…”

Antenatal Detection of Skeletal Dysplasias

“…This discovery has now made it possible to make a diagnosis of thanatophoric dysplasia by molecular methods in utero. [7][8][9][10] Clearly, as the molecular basis for these heterogeneous disorders evolves, so will our classification and ability to antenatally diagnose skeletal dysplasias and, it is hoped, to predict prognosis. In the meantime, sonographic measurements such as severe, micromelic long bone shortening, an FL/AC ratio of less than 0.16, hypoplastic thorax, and distinguishing sonographic characteristics, such as cloverleaf deformity or multiple fractures, may be used to predict prognosis.…”

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia

“…These mutations were con®rmed by direct sequencing. Sawai et al (1999) ®rst described prenatal diagnosis of TD1 by mutational analysis of the FGFR3 gene. The present results further extend molecular applications to TD2 and show that the restriction enzyme digestion analysis of the FGFR3 gene allows rapid de®nitive diagnosis of common TD1 and TD2.…”