Нижньощелепно-лицевий дизостоз – опис рідкісного клінічного випадку

Abstract

У статті проаналізований випадок пацієнта віком 7 років, який народився із нижньощелепно-лицевим дизостозом. Під час збору анамнезу було з’ясовані особливості перебігу вагітності: антибіотико-терапія на п’ятому тижні вагітності, носій Torch, багатоводдя, анемія. Спадковий фактор у сімейному анамнезі не виявлений. Проведений аналіз літературних даних та обґрунтована необхідність розробки сумісної із різними фахівцями комплексної програми реабілітації, в якій ортодонтичне допомога є важливим аспектом як на доопераційному етапі лікування,так і в післяопераційному періоді; В статьи проанализирован случай пациента 7 лет, который родился с нижнечелюстно-лицевим дизостозом. При сборе анамнеза были выяснены особенности беременности: антибиотико-терапия на пятой неделе беременности, носитель Torch, многоводье, анемия. Наследственный фактор в семейном анамнезе не выявлен. Проведен анализ литературных данных и обоснована необходимость разработки совместной с разными специалистами комплексной программы реабилитации, в которой ортодонтическая помощь является важным аспектом, как на дооперационном этапе лечения, так и в послеоперационном периоде; 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.