MANDIBULOFACIAL DYSOSTOSIS. DESCRIPTION OF RARE CASE STUDY

Dmytrenko M. I.

DENTISTRY

Scentific article

Mandibulofacial dysostosis, or Franceschetti syndrome is congenital disorder of craniofacial development that affects approximately one in 50,000 live birth. In the scientific literature this kind of congenital pathology of facial bones, eyelids and ears is also known as Treacher-Collins syndrome. This rare genetic disease often affectes both males and females equally. Its development is associated with disorders in embryonic genesis of the first and second branchial arches during 6-7 week of intrauterine development, as a result of molecular genetic nonsense mutations in TCOF1 genes (78-93%), POLR1C, POLR1D (8%). Clinical features of the disease are antimongoloid slant of palpebral fissures, hypoplasia of zygomatic bones, hypoplasia of the lower jaw, macrostomia, colobomas of the eyelids, malformation of the external ear. Comprehensive specialized care for children diagnosed with mandibulofacial dysostosis is quite complex and requires permanent improvement of individual multidisciplinary treatment methods and causes the urgency of this study. The aim of the study is to substantiate tactics of orthodontic treatment of a patient born with mandibulofacial dysostosis. Objects and methods of research. Complex examination of a 7- year- old patient, who was born with mandibulofacial dysostosis, has been done. The results of clinical and additional examination methods (photometric examination of face, studying of jaws diagnostic models of, roentgenograms) has been analyzed. Results. The parents of the boy P., 7 years old reported with complaints on aesthetic defects of the face, displacement of the lower jaw to the right, malfunction of chewing and speech disorder. It was elicited from anamnesis that mandibulofacial dystostosis was diagnosed at a birth. Hereditary factor in family history is not revealed. The following features of pregnancy were established: antibiotic therapy during the fifth week of pregnancy, Torch carrier, polyhydramnios, anemia. Congenital malformation of the fetus. Anotia on the right. Atresia of the right ear canal. Orthodontic treatment has not been performed. Clinical diagnosis: mandibulofacial dysostosis. Deep, cross distal bite with a shift of mandibula to the right, shortening and narrowing of the dental arches of the upper and lower jaw, insufficient space for teeth 12, 22 eruption; delay of teeth 16, 46 eruption. The plan of medical orthodontic measures was: 1) Preparatory stage: purposeful psychotherapeutic preparation, adaptation for long-term orthodontic treatment; sanitation of oral cavity; improvement of the functional state of the muscles of the maxillofacial region by prescribing a myotherapy complex, which is aimed at balancing of the muscles state that shift the lower jaw. Relaxing massage of the occipital muscles, massage of the collar zone, massage of the alveolar process in teeth 16, 46 eruption area and therapeutic gymnastics to improve the position of the head and posture have been administered. After the massage, it was recommended to apply miogymnastics, exercises for normalizing posture, training of nasal breathing, clicking tongue, slow correct opening and closing of the mouth with the tongue lifting upwards to the palate, speech therapy. 2) Active stage-by-stage orthodontic treatment with application of orthodontic devices of combined action to create better conditions for jaws growth and teeth eruption, correction of occlusion height, correction of dental arches shape, formation of a space for proper placement of teeth in dentition, normalization of the position of mandibula, functional occlusion and stabilization of treatment results. 3) Rehabilitation, taking into account the condition and position of maxilla and mandibula, after surgical restoration of their morpho-anatomical form. 4) Retention of results. Orthodontic treatment makes it possible to improve a certain degree of interocclusal ratio, but it is possible to overcome aesthetic deficiencies only through a complex reconstructive surgical interventions. The main method of treatment of all maxillofacial dysostoses is a reconsructive surgery. Conclusions. Treatment of a child born with a mandibulofacial dysostosis requires the development of a joint rehabilitation program with various specialists, in which orthodontic treatment is an important aspect both at the preoperative stage and in the postoperative period.

Craniofacial malformation, Treacher-Collins syndrome, Franceschetti syndrome, orthodontic treatment

1. Garmash OV, Nazaryan RS, Budreyko EN. Stomatologicheskie aspektyi sindroma zaderzhki vnutriutrobnogo razvitiya v anamneze u detey doshkolnogo vozrasta. Svit meditsini ta biologiyi. 2013;3(39):89-91. [in Russian].
2. Savichuk NO, Parpaley KA, Trubka IО, Timohina VO. Printsipi nadannya stomatologichnoyi dopomogi dityam z vrodzhenimi vadami rozvitku schelepno-litsevoyi dilyanki na etapah likuvannya ta reabilitatsiyi. Visnik problem biologiyi i meditsini. 2015;2(119):206-9. [in Ukrainian].
3. Drogomiretska MS, Suhomlinova TYa, Yakimets AV, Polyanik NYa, Leporskiy DV. Multidistsiplinarniy pidhid do vedennya patsientiv z vrodzhenimi vadami schelepno-litsevoyi dilyanki. Visnik problem biologiyi i meditsini. 2015;2(119):73-8. [in Ukrainian].
4. Garmash OV, Nazaryan RS, Nazarenko LG, Lihacheva NV, Babadzhanyan EN. Gemodinamicheskie narusheniya – patogeneticheskaya osnova patologii tkaney chelyustno-litsevoy oblasti i tserebralnyih narusheniy v kanamneze u patsientov s sindromom zaderzhki vnutriutrobnogo razvitiya. Svit meditsini ta biologiyi. 2013;4(41):19-23. [in Russian].
5. Kasat V. Franceschetti syndrome. Contemp Clin Dent. 2011 Jul-Sep;2(3):245-8.
6. Tse WK. Int Treacher Collins syndrome: New insights from animal models. J Biochem Cell Biol. 2016 Dec;81(Pt A):44-7.
7. Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, et al. Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. Mol Genet Genomics. 2018 Apr;293(2):569-77.
8. Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y. Treacher Collins Syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):893-8.
9. Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D Treacher, et al. Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016 Jan;18(1):49-56.
10. Hylton JB, Leon-Salazar V, Anderson GC, De Felippe NL. Multidisciplinary treatment approach in Treacher Collins syndrome. J Dent Child (Chic). 2012 Jan-Apr;79(1):15-21.
11. Sharma R, Sharma B, Babber M, Singh S, Jain G. Treacher Collins syndrome: A case report and review of ophthalmic features. Taiwan J Ophthalmol. 2016 Oct-Dec;6(4):206-9.
12. Cobb AR, Green B, Gill D, Ayliffe P, Lloyd TW, Bulstrode N, et al.https://www.ncbi.nlm.nih.gov/pubmed/?term=Dunaway%20DJ%5BAu thor%5D&cauthor=true&cauthor_uid=24776174 The surgical management of Treacher Collins syndrome. Br J Oral Maxillofac Surg. 2014 Sep;52(7):581-9.
13. Doroshenko SI. Sindromi v ortodontiyi. Kiyiv: «Zdorov’ya»; 2008. 96 s. [in Ukrainian].
14. Shuvalov SM. Izbrannyie rabotyi po chelyustno-litsevoy hirurgii. Vinnitsa: «PRAO Vinobltipografiya»; 2016. 240 s. [in Russian].

«Bulletin of problems biology and medicine» Issue 4 part 1 (146), 2018 year, 258-263 pages, index UDK 616.314-089.23+616.71-007.1

10.29254/2077-4214-2018-4-1-146-258-263