What affected the little girl born with a “closed mouth” was a serious form of the disease which in the less serious cases (the majority) resolves without consequences after childhood
The news of the girl from Catania born with a “locked mouth” has brought attention to the genetic Nager syndrome, also known as Nager acrofacial dysostosis (NAFD). It is a rare congenital malformation syndrome, which is diagnosed in the prenatal or neonatal period, characterized by mandibulofacial dysostosis, i.e. a congenital bone disease that can lead to craniofacial malformations, malar hypoplasia (which affects the skull bone ), defects in limb development. When anomalies concern the hearing system and the oral cavity, there is a risk of deafness, speech difficulties and obstruction of the upper respiratory tract, while there are usually no repercussions on the development of vision and intelligence. In the less serious cases (which are the most frequent), after childhood, patients enjoy good health and can lead a fairly “normal” life. In the case of the Sicilian girl, the mandibular malformation was extremely serious, with a fusion of the jaw to the skull, which prevented her from opening her mouth for the first 16 years of her life. It took 14 operations to allow her to speak, eat and smile.
September 28, 2023 (modified September 28, 2023 | 3:38 pm)
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