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- W2025028601 abstract "We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype.Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus.Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple-suture synostosis. The most common G380R FGFR3 achondroplasia mutation was detected.The most common achondroplasia mutation should be considered for prenatal DNA testing in cases with ultrasound findings of achondroplasia and multiple-suture synostosis. This is crucial for the genetic counselling and perinatal management of the fetus." @default.
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- W2025028601 date "2006-01-01" @default.
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- W2025028601 title "Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association" @default.
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- W2025028601 doi "https://doi.org/10.1002/pd.1392" @default.
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