Frontonasal dysplasia (FND) is a condition with a more or less severe ocular hypertelorism and, sometimes, a narrowing of the palpebral fissures. The nose is broad and flattened with clefting; it may be bifid or completely divided in two halves. In extreme cases, the central nervous system is concerned and there is a mental deficiency. There is no coronal craniosynostosis in pure FND. Other malformations can be observed. Among the cases reported in the literature, most of them are sporadic but they may be familial. We report here a sporadic case of F.N.D. in which scan examination of the brain shows a possible cephalocele. The literature is briefly reviewed.
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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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