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Prenatal diagnosis of achondroplasia presenting with multiple‐suture synostosis: a novel association
Author(s) -
Karadimas Charalampos,
Trouvas Dimitrios,
Haritatos George,
Makatsoris Constantinos,
Dedoulis Evangelos,
Velissariou Voula,
Antoniadi Thalia,
Hatzaki Angeliki,
Petersen Michael B.
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1392
Subject(s) - achondroplasia , synostosis , medicine , prenatal diagnosis , craniosynostoses , craniosynostosis , fibrous joint , surgery , pregnancy , fetus , biology , genetics
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. Copyright © 2006 John Wiley & Sons, Ltd.