Kongenitalne deficijencije donjih ekstremiteta

master's thesis

• Title (english): Congenital lower limb deficiencies
• Author: Silvija Jakopic
• Mentor: Tomislav Đapić (mentor)
• Committee member: Ivan Bojanić (predsjednik povjerenstva)
• Committee member: Tomislav Meštrović (član povjerenstva)
• Committee member: Tomislav Đapić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Orthopedics); Zagreb
• Defense date and country: 2016-09-28, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Orthopedics

Abstract

Kongenitalne deficijencije donjih ekstremiteta ubrajaju se u skupinu vrlo rijetkih i raznolikih urođenih poremećaja. Patološki entiteti koji se ovdje ubrajaju su: kongenitalna femoralna deficijencija, fibularna hemimelija i tibijalna hemimelija. Nejednakost dužina i osovina ekstremiteta koje se povezuju uz ove entitete dovode do promjene biomehaničkih odnosa.
Embrionalni rast i razvoj donjih ekstremiteta zahtijeva preciznu i kompleksnu regulaciju gena. Istraživanja na životinjama su pokazala da mutacije tih gena ili njihova abnormalna aktivnost mogu biti uzrok kongenitalnih deficijencija donjih ekstremiteta. U većini slučajeva, točan se uzrok ne poznaje.
Rana dijagnoza i klasifikacija važni su u planiranju kirurškog liječenja. Pristup svakom kirurškom liječenju je individualan, a ovisi o težini kliničke slike i o nejednakosti dužina ekstremiteta nakon završetka rasta. Cilj svakog liječenja je postizanje jednakosti dužina i osovina ekstremiteta te time i normalnih anatomskih odnosa.

Abstract (english)

Congenital lower limb deficiencies are group of relatively rare, heterogeneous disorders. The pathologic entities are congenital femoral deficiency, fibular hemimelia and tibial hemimelia. The leg lenth discrepancy associated with these abnormalities can result in severe lifelong morbiditiy related to abnormal weight bearing.
The development of the lower limb requires complex and precise gene interactions. Some research in animals has demonstrated that if during early formation of the limb the genes guiding the formation of that limb are activated in an abnormal order, lower limb deficiencies, can occur. In the most cases, the specific cause of a long bone deficiency is unknown.
Early diagnosis and classification are imperative for appropriate management and surgical planning. Surgical managment is determined by individual case and it depends on the severity, associated anomalies and projection of growth, and leg discrepancy at maturity. The objectives of treatment are eqalization of the lower extremity lenght, leg strengthening and achievement of near normal anatomic alignment.

• Keywords: deficijencije donjih ekstremiteta; klasifikacija; kirurško liječenje
• Keywords (english): limb deficiencies; classification; surgical treatment
• Language: croatian
• URN:NBN: urn:nbn:hr:105:631586
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-08-10 08:30:13