Franceschetti syndrome (mandibulo-facial dysostosis) at a newborn

Abstract

The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis) resulting from defeat of the structures proceeding from the first branchial arch. The pathological state is inherited on autosomno-dominanttype. The disease can be observed in two or even three generations. The supervision represents a great interest from the clinical point of view as it rarely occurs in daily practice. Early diagnostics of difficult genetic syndromes and the clinical supervision described represent significant difficulties. According to the research, in similar situations statement of the syndromal diagnosis with specification of anomalies of development on the basis of the analysis of clinical data, additional methods of inspection, with the subsequent surgical correction of the broken functions has been justified.

Keywords

• developmental anomaly
• Franceschetti syndrome
• gene mutations
• headache