We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.
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Article Synopsis
- - Frontonasal dysplasia (FND) is a rare congenital condition characterized by facial anomalies, such as a deformed nose and wide-set eyes (ocular hypertelorism), and can be associated with other issues like cleft lip/palate.
- - A 33-year-old pregnant woman was diagnosed at 20 weeks with FND and additional complications, including limb anomalies and brain underdevelopment, using 3D ultrasound; despite extensive genetic testing, no new gene variants were identified.
- - This case highlights the spectrum of FND and demonstrates that 3D ultrasound is effective in identifying associated deformities during prenatal assessments.
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