Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

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

Karadimas C, Trouvas D, Haritatos G, Makatsoris C, Dedoulis E, Velissariou V, Antoniadi T, Hatzaki A, Petersen MB

Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece.

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.

Published 6 March 2006 in Prenat Diagn, 26(3): 258-61.
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