1.
Prenat Diagn
; 26(3): 258-61, 2006 Mar.
Article
in English
| MEDLINE
| ID: mdl-16475234
ABSTRACT
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.