Section: 
From practice
From practiceA family case of Franceschetti syndrome (OMIM 154500) with severe lesions of the middle ear
A. Yu. Petrunichev (1), A. F. Barsukov (1), V. A. Voronov (1)
(1) Mechnikov Northwest State Medical University Ministry of Healthcare of the Russia, Saint Petersburg, 191015, Russia
UDK: 616.28-008.14-056.7
DOI: https://doi.org/10.18692/1810-4800-2019-3-96-101
ABSTRACT
The article deals with the possibilities of diagnostics and genealogical study of Franceschetti syndrome revealed in a patient S. and her daughters. In most cases, this syndrome is characterized by the deformation of the maxillofacial system with the hypoplasia of the lower part of the face, as well as the aurical structure abnormality with conductive hearing loss. A woman with this disease with a visible facial skeleton dysmorphia and bilateral mixed chronic hearing loss was examined as a proband. The autosomal dominant mode of inheritance makes it possible to reveal such patients in all the three available generations. The standard syndromological diagnostic methods with the use of genetic diseases databases, as well as the genealogical method of examination of the proband’s available relative with the assessment of their medical documents are used for medical and genetic consultation of these patients. Many patients with Franceschetti syndrome had significant impairments of the structure and function of the middle ear which necessitated the conservative treatment and hearing prosthetics. The set diagnosis of this disease in the proband and her daughters confirmed by the data of medico-genetic examination made it possible to make a prognosis for the conservation of health of all the affected family members and calculate the genetic risk of birth of diseased children.
Publication date:
18.06.2019
Keywords:
Franceschetti syndrome, Treacher Collins syndrome, mandibulofacial dysostosis, inherited deafness. For citation:
Petrunichev A. Yu., Barsukov A. F., Voronov V. A. A family case of Franceschetti syndrome (OMIM 154500) with severe lesions of the middle ear. Rossiiskaya otorinolaringologiya. 2019;18(3):96–101. https://doi.org/ 10.18692/1810-4800-2019-3-96-101