Title Sindromi orofacijalne regije
Title (english) Syndromes of orofacial region
Author Nika Dumančić
Mentor Marko Vuletić (mentor)
Granter University of Zagreb School of Dental Medicine Zagreb
Defense date and country 2023-09-29, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Dental Medicine
Abstract Orofacijalni sindromi heterogena su skupina poremećaja koji imaju različito izražene anomalije pogotovo kraniofacijalne, ali i drugih regija. S većim saznanjem o genetici poznato je da se rijetki sindromi nasljeđuju prema Mendelovim zakonima i da se većina nasljeđuje multifaktorski gdje, uz utjecaj jednog ili više gena, na razvoj malformacija utječu i okolišni čimbenici. Najučestaliji sindromi orofacijalne regije koji su uzrokovani anomalijama kromosoma su Downov sindrom, Klinefelterov sindrom, Turnerov sindrom, Patau sindrom, Fra-X sindrom i Treacher Collinsov sindrom. Dismetaboličke sindrome predstavljaju sindromi
do kojih dolazi zbog genetskog poremećaja enzimskih proteina, a glavni su predstavnici mukopolisaharoze i mukolipidoza. Displazijski sindromi skupina su koju karakterizira abnormalnost strukture stanica u tkivima, a mogu se podijeliti na jednostavne i hamartoplazijske sindrome. Jednostavni displazijski sindromi zahvaćaju jedan zametni sloj te se dijele na ektodermne i mezodermne displazije. Hamartoneoplazijski sindromi zahvaćaju jedan, dva ili tri zametna sloja, a karakteristična je pojava hamartoma, hiperplazije tkiva i sklonost razvijanju neoplazija. Rascjep usne i/ili nepca najčešća je kongenitalna malformacija orofacijalne regije koja se može pojaviti samostalno ili u sklopu sindroma, kao što su DiGeorgeov i Van der Woudeov sindrom. Sindromi koji su uzrokovani imunološkim anomalijama i najčešće zahvaćaju orofacijalnu regiju su Behçetov i Sjögrenov sindrom. Također, neki od poznatijih sindroma koji zahvaćaju orofacijalnu regiju su i Gorlin-Goltz sindrom, kleidokranijalna displazija i Murray-Puretić sindrom. Poznavanje sindroma od velike je važnosti kako bi se omogućilo optimalno održavanje oralnog i općeg zdravlja pojedinca.
Abstract (english) Orofacial syndromes are a heterogeneous group of disorders with variously expressed anomalies especially in the craniofacial, but also other regions. With greater knowledge of genetics, it has become evident that the syndromes inherited according to Mendel's laws are rare and that most of them are inherited multifactorialy, where, in addition to the influence of one or more genes, the development of malformations is also influenced by environmental factors. The most common syndromes of the orofacial region caused by anomalies of chromosomes are Down syndrome, Klinefelter syndrome, Turner syndrome, Patau syndrome, Fra-X syndrome and Treacher Collins syndrome. Dysmetabolic syndromes arise from genetic disorders of enzymatic proteins, with the main representatives being mucopolysaccharoses and mucolipidosis. Dysplastic syndromes are a group characterized by abnormal cell structure in tissues and can be classified as simple or hamartoplastic syndromes. Simple dysplastic syndromes involve a single germ layer and are categorized as ectodermal and mesodermal dysplasias. Hamartoplastic syndromes affect one, two or three germ layers, and are characterized by the appearance of hamartomas, tissue hyperplasia and a tendency to develop neoplasia. Cleft lip and/or palate are the most common congenital malformation of the orofacial region that can occur independently or within syndromes, such as DiGeorge and van der Woude syndrome. Syndromes caused by immune anomalies that most offten affect the orofacial region are Behçet's and Sjögren's syndrome. Other well-known syndromes affecting the orofacial region include Gorlin-Goltz syndrome, cleidocranial dysplasia and Murray-Puretić syndrome. Knowledge of syndromes is vital for ensuring optimal oral and general health of an individual.
Keywords
orofacijalni sindrom
kromosomski sindrom
dismetabolički sindrom
displazijski sindrom
rascjepi usne i nepca
Behçetov sindrom
Sjögrenov sindrom
Gorlin-Goltz
kelidokranijalna displazija
Murray-Puretić sindrom
Keywords (english)
orofacial syndromes
chromosomal syndromes
dysmetabolic syndromes
dysplastic syndromes
cleft lip and palate
Behçet's syndrome
Sjögren's syndrome
Gorlin-Goltz syndrom
cleidocranial dysplasia
Murray-Puretić syndrome
Language croatian
URN:NBN urn:nbn:hr:127:868991
Study programme Title: dental medicine Study programme type: university Study level: integrated undergraduate and graduate Academic / professional title: doktor/doktorica dentalne medicine (doktor/doktorica dentalne medicine)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2023-09-22 18:10:57