Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association


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Abstract

ObjectiveWe report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype.MethodsSonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus.ResultsSonographic findings were consistent with a diagnosis of achondroplasia associated with multiplesuture synostosis. The most common G380R FGFR3 achondroplasia mutation was detected.ConclusionThe 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.

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