OBJECTIVE: We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation. METHODS: Prenatal sonographic examinations performed at 23 weeks' gestation revealed micromelic shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. RESULTS: A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. CONCLUSION: Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling. Copyright 2008 S. Karger AG, Basel.
OBJECTIVE: We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation. METHODS: Prenatal sonographic examinations performed at 23 weeks' gestation revealed micromelic shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. RESULTS: A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. CONCLUSION: Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling. Copyright 2008 S. Karger AG, Basel.
Authors: Maria Daniela Renna; Paola Pisani; Francesco Conversano; Emanuele Perrone; Ernesto Casciaro; Gian Carlo Di Renzo; Marco Di Paola; Antonio Perrone; Sergio Casciaro Journal: World J Radiol Date: 2013-10-28
Authors: Ursula Nemec; Stefan F Nemec; Deborah Krakow; Peter C Brugger; Gustavo Malinger; John M Graham; David L Rimoin; Daniela Prayer Journal: Insights Imaging Date: 2011-02-19