TY - CHAP M1 - Book, Section TI - Thanatophoric Dysplasia A1 - Bianchi, Diana W. A1 - Crombleholme, Timothy M. A1 - D'Alton, Mary E. A1 - Malone, Fergal D. Y1 - 2015 N1 - T2 - Fetology: Diagnosis and Management of the Fetal Patient, 2e AB - Key PointsMost common of the lethal skeletal dysplasias. Presents in the second trimester.Two subtypes exist: TD I has short curved femurs with or without a cloverleaf skull; TD II has straight, longer femurs and generally a more severe cloverleaf skull.Sporadic inheritance with extremely small recurrence risk associated with advanced paternal age (>35 years).Mutations in fibroblast growth factor receptor 3 (FGFR3) are the underlying basis for the disorder. There is a strong genotype–phenotype correlation. DNA diagnosis is highly accurate.FGFR3 is also expressed in the brain. Rare survivors are uniformly severely developmentally delayed. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - obgyn.mhmedical.com/content.aspx?aid=1106399936 ER -