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 achondroplasia mutation was detected.
Conclusion: 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.
2006 John Wiley & Sons, Ltd.