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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.


Subject(s)
Achondroplasia/diagnostic imaging , Craniosynostoses/diagnostic imaging , Fetal Diseases/diagnostic imaging , Receptor, Fibroblast Growth Factor, Type 3/genetics , Ultrasonography, Prenatal , Achondroplasia/genetics , Adult , Craniosynostoses/genetics , Exons , Female , Fetal Diseases/genetics , Humans , Mutation , Pregnancy
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