Clinical and genetic particularities in Franceschetti syndrome: presentation of clinical case

Abstract

Introduction. Franceschetti syndrome (FS) also known as Treacher-Collins syndrome (TCS), is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia, without abnormalities of the extremities and associated with several head and neck defects. It affects both genders equally. FS can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant-about 55%-61% of probands have the disorder as the result of a de novo TCOF1, POLR1D, or POLR1B pathogenic variant. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Purpose. The importance of clinical and genetic approaches to Franceschetti syndrome is to establish an early diagnosis and present the clinical case. Material and methods: this paper comprises analysis of the bibliographic sources regarding children that have Franceschetti syndrome and the synthesis of the clinical case of a 9-year-old boy with FS. Results: A 9-year-old boy applied for a clinical-genetic evaluation during the medicalgenetic consultation at the Mother and Child Institute. Clinical examination: underdevelopment of facial bones and mandibular hypoplasia, characteristic appearance of the face - facies in "bird's beak", macrostomy, the inclination extends below the external angle of the eyelid slit - antimongoloid appearance, nazofrontal angle is obliterated and the nasal bone is increased, bilateral malformations of the ears, hearing loss up to 40%, normal intelligence. The diagnosis was established based on clinical criteria, based on the association of characteristic dysmorphism and transmission deafness. Radiological examination revealed typical changes of the mandible. The audiogram confirmed bilateral transmission deafness. Conclusions. 1. The knowledge of the clinical-genetic aspects according to the literature contributes to the early diagnosis of FS in children. 2. Identification of the mutation in the FS is at the research stage, but molecular study by the indirect method can contribute to genetic counseling in familial forms. 3. Treatment should be tailored to the specific needs of each individual, preferably by a multidisciplinary craniofacial management team.