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  • Title: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.
    Author: Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H.
    Journal: Fetal Diagn Ther; 2008; 24(4):420-4. PubMed ID: 18987480.
    Abstract:
    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.
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