malformatiile congenitale ale mainii
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Malformatiile congenitale ale mainiiTRANSCRIPT
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MALFORMATIILE CONGENITALE ALE MAINII
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CE SUNT MALFORMATIILE CONGENITALE ALE MAINII?
O multitudine de deformari la nivelul mainii
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MARE PROBLEMA PSIHICA SI SOCIALA
CAND SE OBSERVA O ASTFEL DE MALFORMATIE?
• Prenatal
• La nastere
Mai tarziu!!!
ParintiPacientMedic
Pacient
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CUM TRATAM UN CAZ DE MALFORMATIE CONGENITALA
LA NIVELUL MAINII/ MEMBRULUI SUPERIOR?
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TOTUL SE FACE IMPREUNA CU TOTUL SE FACE IMPREUNA CU PARINTII!PARINTII!
• Anamneza– Familiala
• Boli familiale• Malformatii• Vicii• Contact cu factori poluanti• Statut psiho-social
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TOTUL SE FACE IMPREUNA CU TOTUL SE FACE IMPREUNA CU PARINTII!PARINTII!
• Anamneza– Mamei (perioada sarcinii)
• Starea de sanatate in timpul sarcinii• Consum de alcool, tutun, droguri, medicamente• Expunerea la substante toxice, radiatii• Traumatisme• Stres• Interventii chirurgicale
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TOTUL SE FACE IMPREUNA CU TOTUL SE FACE IMPREUNA CU PARINTII!PARINTII!
• Anamneza– Copilului
• Evolutia in timpul sarcinii*• Diagnostic prenatal*• Nastere la termen?*• Nastere cu probleme (obstetricale sau de alta
cauza)?*• Tipul de nastere• Starea la nastere*
*exista posibilitatea ca aceste date sa nu le putem obtine
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TOTUL SE FACE IMPREUNA CU TOTUL SE FACE IMPREUNA CU PARINTII!PARINTII!
• Se linistesc parintii • Se inlatura sentimentul lor de frustrare• Eventual se indruma spre consultanta psihologica• Se discuta cu ei gravitatea cazului• Li se explica in detaliu, dar pe intelesul lor patologia
copilului (ce boala are, boli asociate, cum s-a produs boala)
• Li se explica strategia terapeutica, riscurile, sansa de reusita, gradul de reusita, eventualele complicatii, alternative, daca exista, eventuala nereusita si consecintele acesteia asupra copilului
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COLABORAREA COLABORAREA INTERDISCIPLINARA ESTE INTERDISCIPLINARA ESTE
ESENTIALAESENTIALA
Colaboratori:
• Medic de familie
• Pediatru
• Radiolog-imagist
• Medic de laborator
• Genetician
• Si altii in functie de nevoi
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ABORDAREA CAZULUI ABORDAREA CAZULUI CUPRINDE DOUA ETAPE CUPRINDE DOUA ETAPE
PRINCIPALEPRINCIPALE
• STABILIREA DIAGNOSTICULUI COMPLET– Malformatia este izolata sau se asociaza cu alte
sindroame congenitale sau alte boli?
• TRATAMENT– Protetic unic?– Din start chirurgical?– Mai intai protetic si apoi chirurgical?– Momentul operator– Pacientul este apt pentru operatie?
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CLASIFICARE
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CLASIFICARE
1. Insuficienta de dezvoltare a partilor mainii
2. Insuficienta de diferentiere a partilor mainii
3. Duplicarea
4. Gigantismul
5. Hipoplazia
6. Sindromul inelelor congenitale constrictive
7. Anomalii scheletale
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INSUFICIENTA DE DEZVOLTARE A PARTILOR MAINII
• Tulburari transversale
• Tulburari longitudinale– Focomelia– Insuficienta radiala - mana stramba radiala-
hipoplazia preaxiala– Insuficienta centrala- mana despicata– Insuficienta ulnara- mana stramba ulnara
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TULBURARI TRANSVERSALE
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• Tulburari transversale– absenta completa a unor parti distal fata de
un punct – aspect ca de amputatie la diverse nivele
– Majoritatea sunt unilaterale– Cel mai frecvent nivel 1/3 sup antebrat si la
nivel transmetacarpian– Nu are baza genetica- tulb unilaterala– Tulb transversale bilaterale pot fi transmise
autosomal recesiv
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• Tulburari transversale– Afectiuni ce se asociaza cu aceasta
malformatie:• Hidrocefalia• Spina bifida• Mielomeningocel• Luxatie de cap radial• Sinistoza radioulnara
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• Tratament protetic– Moment: cand copilul incepe sa mearga– Diverse proteze in functie de varsta si de
sediul defectului
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• Tratament chirurgical– Indicatii
• Defect bilateral sub cot
– Conditii• Defect sub cot la niv antebratului, cu segment
restant de cel putin 8 cm sub insertia bicepsului, musculatura antebratului relativ normala
• Familia accepta operatia pentru o buna functionalitate
Se poate adapta proteza in orice moment postoperator, la cerere!
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Reconstructia Krukenberg
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Reconstructia Krukenberg
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Reconstructia Krukenberg
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TULBURARI LONGITUDINALE
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Focomelia
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• Absenta unui segment intercalat • Mana este legata de trunchi mai aproape de
umar• Mana este de obicei deformata si are trei sau
patru degete• Asociere cu thaliomid-mama in timpul sarcinii• Fara determinism genetic• Se asociaza cu: despicatura labio-palatinatina,
scolioza, anomalii cardiace, cromozomiale
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Trei tipuri anatomice
• A. mana atasata direct de umar
• B. mana atasata de umar prin intermediul unor segmente de humerus, ulna si radius anormal dezvoltate
• C. mana atasata de umar doar prin intermediul humerusului
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• Tratamentul este conservator
• S-a incercat chirurgical alungire prin intermediul claviculei si prin proteze de alungire dar fara rezultate bune
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Insuficienta radiala - mana stramba radiala- hipoplazia preaxiala
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• Insuficienta radiala cuprinde insuficienta de dezvoltare sau absenta muschilor tenarieni, police scurtat, instabil sau absent si radius scurtat sau absent
• Aceste afectiuni pot fi izolate sau comune• Afectarea bilaterala 50%• Incidenta pe sexe 50%• Absenta completa a radiusului este mai frecventa decat cea partiala• Cauza este necunoscuta; afectiunea apare sporadic• Insuficienta radiala asociata cu anemia Fanconi si trombocitopenia
– transmise autosomal dominant• Se poate asocia cu anomalii cardiace, hematopoietice,
gastrintestinale si renale (25%) si cel mai frecvent cu sindromul Holt-Oram, trombocitopenia, anemia Fanconi, sindromul VATER, atrezia esofagiana, trissomia 13, 18
• Scapula si clavicula sunt reduse in dimensiuni, scafoidul si trapezul sunt absente in 50% , policeele in 80%, lunatul, trapezoidul si pisiformul sunt ineficiente in 10%
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Clasificare
• Tip 1. radius scurt distal
• Tip 2. radius hipoplastic
• Tip 3. radius absent partial
• Tip 4. radius absent total (cea mai comuna forma) cu deviatie radiala a carpului, subluxatie palmara si proximala, ulna scurtata si curbata in sens radial
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• Tratament nechirurgical:– Imediat dupa nastere– Atela din plastic– Se scoate numai la baie si cand copilul incepe
sa isi foloseasca mainile eficient– Nu este satisfacator
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• Tratamentul chirurgical:– Poate fi precedat pentru 2, 3 ani de tratament
conservator cu atela.– La cazurile cu absenta totala de radius se face
corectarea la varsta de 3-6 luni (policizarea, cand este indicata se face la 9-12 luni)
– Contraindicatii:• Anomalii asociate foarte grave• Insuficienta radiala tip 1 si 2• Pacienti de varste mari care refuza interventia
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Operatii
• Centralizarea carpului pe antebratCentralizarea carpului pe antebrat
• Policizarea cand este cazul
• Transferul tricepsului pentru refacerea flexiei cotului
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Centralizare tehnica 1
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Centralizare tehnica 1
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Postoperator
• Imobilizare 6 saptamani
• Brosa este scoasa la 6-12 saptamani
• Se poarta o atela usoara pana la maturizarea scheletala a copilului
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Centralizare tehnica 2
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Centralizare tehnica 2
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Centralizare tehnica 3
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Insuficienta centrala- mana despicata
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• Reprezinta malformatiile cu insuficienta de formare longitudinala a razelor digitale 2, 3 si 4
• Aceasta malformatie este foarte rara• De obicei apare bilateral cu deformari similare si la
ambele picioare• Forma atipica este cea cu mana in forma de “U” format
din degetele 1 si 2, celelalte fiind lipsa. Aceasta forma apare de obicei unilateral, fara modificari si la nivelul picioarelor
• Anomalii asociate cu mana despicata pot fi: piciorul despicat, despicatura labio-palatina, cataracta, humerus scurt, absenta marelui pectoral, sinostoza cotului, femur scurt etc
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• Tratamentul este chirurgical – Se corecteaza sindactilia care apare de
regula – la varsta de 6 luni– Se corecteaza insuficienta centrala la cca 18
luni de viata– Exista mai multe tipuri de tehnici chirurgicale,
in functie de felul defectului
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Tehnica 1
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Tehnica 2
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Tehnica 3
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Tehnica 4
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Insuficienta ulnara- mana stramba ulnara
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• Cea mai comuna forma este insuficienta partiala de dezvoltare a ulnei si a degetelor 4 si 5
• Aceasta malformatie mai are denumiri ca : dismelia ulnara, hemimelia paraxiala ulnara, absenta congenitala a ulnei
• Este malformatia cu incidenta cea mai mica• Cauza este necunoscuta, aparitia fiind sporadica
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• Se descriu patru tipuri anatomice de insuficienta ulnara:– Tipul 1. hipoplazia ulnei– Tipul 2. absenta totala a ulnei– Tipul 3. absenta totala sau pariala a ulnei cu
sinostoza humeroradiala– Tipul 4. absenta totala sau partiala a ulnei
asociata cu amputatia congenitala a mainii de la nivelul pumnului
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• Anomalii asociate cu insuficienta ulnara pot fi:– Insuficienta fibulara– Spina bifida– Agenezie femurala– Defecte mandibulare– Absenta patelara– Deformarile carpiene sunt frecvente
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• Antebratul este de regula scurtat
• Exista grade diferite de angulare ulnara
• De regula afectiunea este unilaterala
• Pisiformul si hamatul de regula sunt absente
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• Tratament nechirurgical:– Atela corectoare pana la varsta de 6 luni,
cand , daca nu exista contraindicatii se impune corectia chirurgicala
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• Tratamentul chirurgcal este strict indicat in cazurile cu prezenta partiala a ulnei, iar tehnica consta in crearea unui os unic al antebratului
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INSUFICIENTA DE DIFERENTIERE A PARTILOR MAINII
• Sindactilia
• Sindromul Alpert
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Sindactilia
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• Este cauzata de incapacitatea unor degete de a se diferentia in timpul dezvoltarii embriologice
• Este cea mai frecventa malformatie congenitala a mainii
• Cauza este necunoscuta• Pot fi complete, incomplete, acrosindactilii,
brahisindactilii, simple sau complexe.• Anomalii ce pot fi asociate cu sindactilia pot fi:
polidactilia, inele constrictive, hemangioame, deformari spinale diverse, afectiuni cardiace
• Afectiunea apare mai frecvet la sexul masculin
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• Tratamentul este exclusiv chirurgical, iar momentul operator trebuie ales inainte ca pacientul sa mearga la scoala, dar de preferabil dupa varsta de 18 luni.
• Procedurile chirurgicale presupun trei pasi principali:– Separarea degetelor– Reconstructia comisurii interdigitale– Refacerea marginilor degetelor
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Sindromul Apert
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• Descris in 1906 de Apert ca un grup de diformitati ce includeau faciesuri atipice si sindactilii complexe multiple la nivelul mainii (acrocefalosindactilie).
• Se pare ca aparitia sindromului este conditionata de mutatia unei gene la unul din parinti, iar transmiterea se face autosomal dominant si recesiv.
• Sindromul este impartit in doua mari categorii: tipic (cu sindactilii complexe multiple) si atipic (cu sindactilii partiale).
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• Semne clinice • La nastere:
– Frunte inalta– Occiput turtit, plat– Ochi departati cu cantusul intern mai jos dacat cel extern– Maxilar scurt– Retardul mental poate fi prezent– Pot fi asociate anomalii viscerale– Malformatiile de la nivelul mainilor sunt de regula simetrice– Mainile au forma de lingura, cu degetele subtiate spre distal, cu
sindactilii complexe la nivelul degetelor 2, 3 si 4– Bratele si antebratele de regula sunt scurte, iar mainile au 4
degete.
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• Tratamentul este chirurgical la nivelul mainii si consta in constrirea unei maini functionale formata din trei degete aliniate si unul opozabil.
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DUPLICAREA (POLIDACTILIA)
• Polidactilia preaxiala (police bifid)
• Police trifalangian
• Polidactilia postaxiala
• Polidactilia centrala
• Dimelia ulnara
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Polidactilia preaxiala (police bifid)
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• Reprezinta o duplicare completa sau partiala a policelui
• Cauza este necunoscuta, apare sporadic• In asociere cu policele trifalangian
transmiterea autosomal dominanta pare a fi prezenta
• Apare ca afectiune izolata• Exista 7 tipuri de police bifid dupa
clasificarea lui Wassel, unanim acceptata
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• Tratamentul este chirurgical
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Policele trifalangian
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• Policele are o falanga in plus• Afectiunea poate fi transmisa autosomal
dominant• Anomalii ce pot fi asociate: defecte tibiale,
anomalii congenitale cardiace, anemia Fanconi, anomalii cromozomiale si ale tractului gastrointestinal
• Se descriu doua tipuri majore– Falanga delta– Falanga aditionala continua
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Polidactilia postaxiala
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• Cea mai frecventa forma este duplicarea degetului 5
• Se clasifica in trei tipuri: 1. duplicarea doar a partilor moi, 2. duplicarea partiala a degetului inclusiv structuri osoase, 3. duplicarea coompleta, iinclusiv a metacarpianului (f.rar)
• Tipurile 2 si 3 se transmit autosomal dominant, tipul 1 este multifactorial, avand implicate doua gene cu penetranta incompleta.
• Tratamentul este chirurgical.
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Polidactilia centrala
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• Apare duplicarea degetelor 2, 3 si 4
• Rar duplicarea este solitara, de cele mai multe ori se asociaza cu o sindactilie complexa
• Anomalii ce pot fi asociate: polidactilia si sindactilia picioarelor
• Tratamentul este chirurgical
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Dimelia ulnara (mana in oglinda)
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• Apare ca un manunchi de degete supranumerare situate radial sau ulnar, ce par a fi aproximativ imaginea in oglinda a mainii propriuzise.
• Cauza este necunoscuta, iar aparitia este sporadica• Este de obicei asociata cu diverse grade de hipoplazie a
bratului si scapulei• Apare de regula unilateral• Mana afectata poate sa aiba 6-8 degete• Tratamentul este chirurgical cu momentul operator in
jurul varstei de 2 ani
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GIGANTISMUL (MACRODACTILIA)
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• Este o anomalie congenitala rara• Cel mai frecvent este implicat indexul• Cauza este nesigura; exista trei factori determinanti
posibili: inervatie anormala, vascularizatie anormala, mecanism umoral anormal
• Macrodactilia poate apare de la inceput sau poate sa apara in copilarie si progreseaza mai rapid
• In 10% din cazuri se asociaza cu sindactilia• Unii pacienti cu neurofibromatoza pot dezvolta
macrodactilie• Tratamentul este chirurgical
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HIPOPLAZIA (MICRODACTILIA)
• Police hipoplastic– Police scurt– Police in adductie– Police in abductie– Police flotant– Police absent– Police scobit
• Hipoplazia mainii si degetelor
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SINDROMUL INELELOR CONGENITALE CONSTRICTIVE
• Hipoplazia mainii si degetelor
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ALTE ANOMALII
• Trigger finger
• Camptodactilia
• Anomalia Kirner
• Falanga delta
• Anomalia Madelung