Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation

作者：Celia Gonzalez Huerta Norma; Manuel Valdes Miranda Juan; Perez Cabrera Adrian; Pacheco Cuellar Guillermo; Maria Gonzalez Huerta Luz; Alberto Cuevas Covarrubias Sergio

来源：Journal of Maternal-Fetal and Neonatal Medicine, 2010, 23(7): 688-691.

DOI：10.3109/14767050903440455

• Prenatal diagnosis
• Noonan syndrome
• PTPN11 gene

Objective. To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.
Study design. Case report.
Results. We detected in a pregnant woman and her child the GConclusions. Ultrasonography 3D is useful in the antenatal diagnosis of major congenital anomalies. Molecular studies should also be included to confirm the specific diagnosis.

• 出版日期2010-7