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ba0007p99 | (1) | ICCBH2019

Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues

Baujat Genevieve , Borghese Roxana , Sonigo Pascale , Bacrot Severine , Bengoa Joana , Michot Caroline , Millischer Anne-Elodie , Rondeau Sophie , Childs Beatrice , Attie-Bittach Tania , Bessieres Bettina , Salomon Laurent , Ville Yves , Bonnefont Jean-Paul , Steffann Julie , Cormier-Daire Valerie

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...

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Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues

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