Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference21 articles.
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2. Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: Atelosteogenesis III (AO III). Correlation with autopsy;Cordier;Prenat Diagn,2008
3. Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester;De Biasio;Prenat Diagn,2005
4. First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia;Delahaye;Prenat Diagn,2010
5. First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia;Den Hollander;Am J Med Genet,1997
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1. Evaluation of first trimester ultrasound fetal biometry ratios femur length/biparietal diameter, femur length/abdominal circumference and femur length/foot for the screening of skeletal dysplasia;Prenatal Diagnosis;2023-01-04
2. Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis;La radiologia medica;2017-07-03
3. Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements;Taiwanese Journal of Obstetrics and Gynecology;2017-06
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