Prenatal Diagnosis · 2006 · 15 citations · 17 references
MedicineGeneticsMolecular GeneticsGenetic CounselingHuman GeneticsPrenatal DiagnosisCongenital Cranial AnomaliesCongenital Craniofacial AnomaliesCongenital DisordersCongenital Musculoskeletal DisordersCraniosynostosis GeneticsFetal Anomaly DetectionCranial Base SynostosisDevelopmental CraniosynostosisFgfr3 Mutation SpectrumMolecular Diagnosis Of CraniosynostosisMolecular Genetic AssociationMolecular Genetic DiagnosisMultiple Suture CraniosynostosisPrenatal Molecular Diagnosis
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.
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Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 623 citations
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 483 citations