Article
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.
Prenatal diagnosis - 1 Mar 2006
Karadimas Charalampos, Trouvas Dimitrios, Haritatos George, Makatsoris Constantinos, Dedoulis Evangelos, Velissariou Voula, Antoniadi Thalia, Hatzaki Angeliki, Petersen Michael B
Abstract excerpt
OBJECTIVE: We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype. METHODS: Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus. RESULTS: Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple-suture synostosis. The most common G380R FGFR3...
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