meldronate next day delivery no prescription needed canadian online pharmacy meldronate numbness in hands meldronate use in sports mildronate order by phone mildonium grindeks meldonium zappos meldronate dihydrate monoxide mildonium quit smoking meldronate tablets under $100 meldonium grindeks pharma mildonium yahoo calendar meldonium medication side effects generic mildronate uk paypal purchasing meldronate online meldonium wikipedia free kas yra mildronate carnitine mildronate buy ukrainian purchase mildronate in mexico mildonium daily use reviews mildonium dosage for infant mildronate discount meldronate benefits and side effects meldonium juice cleanse meldonium dosage of tylenol meldonium qt syndrome in children mildonium ampicillin mildronate on line in the uk where to buy online drugs in the italy mildronate athletes wives meldonium lethal dose of ibuprofen meldonium juice recipes buy online meldronate generic buy meldronate with no script buy meldronate with paypal meldonium lvn mildronate amps pill rx health order meldronate products order mildonium online no presctiption meldonium xanax interaction with ambien meldronate lethal dose of benadryl purchase meldonium in mexico cheap generic meldronate comprar meldronate portugal meldonium what is it wiki meldonium order online mildronate wikipedia dictionary order meldonium without rx meldonium next day cost of mail meldonium meldonium casio meldonium lorazepam side mildronate with no perscription meldonium qtc medical services mildonium uk athletics mildonium dihydrate testosterone meldonium joint non prescription birth control pills to buy how to order meldronate online mildonium xanax interaction with gabapentin mildronate hplc pump meldronate wadanohara meldonium lotion for eczema mildronate for athletes purchase meldronate legal mildronate in croatia mexico pharmacies online that sell meldonium mildronate without a perscription meldronate for dogs can you get mildonium meldonium endurance international group meldronate youtube mildonium lorazepam high purchase mildonium in india meldonium msds diesel meldonium dosage of aspirin mildronate xanax buy mildonium online us no prescription drugs similar to mildonium can i make mildonium buy meldonium tablets usa mildronate sigma meldonium indications for splenectomy meldonium cost in canada mildronate lowest price kas ir mildonium uses meldronate cycling gear what is mildronate made of meldonium msds database mildonium pdf to word purchase mildronate mg mail order generic mildronate online pharmacies with out prescription buy meldronate tablets mexico meldronate cheap australia pharmacy buy meldonium in usa meldronate coupon code meldronate to purchase without a prescription non prescription meldonium pharmacy mildonium numbness in right meldonium cheap australia pharmacy meldonium legal us buy mildronate online with out prescription mildronate liver pain mildronate qtc management mildonium zithromax side meldonium buy used cars meldronate dihydrate formula mildonium vaistas thiogamma canada pharmacy no prescription mildonium kicksonfire mildronate in sport tv meldronate where to buy where to purchase meldonium cost of meldronate without insurance safe mildonium no precription buy meldonium otc mildronate stimulant crossword buy mildronate tablets mexico meldronate zinc mildronate tinnitus retraining mildronate neocon meldonium livermore mildonium noprescrition needed usa online pharmacy meldonium for pregnant women mildronate nootropicsdepot buy mildonium on internet forums meldonium what is it cost meldronate lotion in the basket buy mildonium online canada no prescription meldonium rumer mildonium brand positioning is meldonium legal in uk mildonium qtc meldonium ltv mildronate where to buy mildonium endurance products mildonium fast canada mildonium buy online mexico mildonium rumer my mildronate coupons canadian mildronate meldronate amplitude buy meldonium online safely meldonium cancer fighting online meldonium with no prescription meldronate journals and diaries mildonium qt syndrome medications meldronate doping mildronate grindekss buy over the counter meldronate online noprescrition needed canada online pharmacy mildronate ampules plaukams mildonium in sports meldronate 500mg niacin meldonium generic usa cheap meldonium sale uk meldronate klonopin withdrawal symptoms order mildronate from usa without prescription mildronate medication meldronate drug information meldronate quitclaim meldonium what is it olainfarm instrukcija meldronate mexico pharmacy meldonium over the counter india mildonium carnitine transporter mildronate wikipedia english mildronate qtc calculator mildronate longevity medical clinic meldronate generic name no prescription mildronate sale buying mildonium meldronate buy online mexico cheap mildonium free delivery mildonium online in canada mildronate with no subscription mildonium jessica meldronate gx by gwen mildronate carnitine transporter meldonium children mildonium online pay paypal meldonium indications for tracheostomy is there a shortage of meldonium kas ir mildronate dihydrate meldonium nutrition express meldonium numbness in face meldronate usa pharmacy is it safe to buy mildronate online ordering mildronate uk meldronate juice cleanse buy meldronate online without prescription mildronate uk pharmacy mildronate klonopin for anxiety where to buy meldronate online india meldronate ampules from china meldronate carnitine best site for meldonium canadian pharmacy without rx mildronate online pharmacy mildonium stimulant laxatives meldronate qt syndrome emedicine o meldronate dihydrate oxide meldonium wadanohara meldronate side effects list meldonium nutrition depot mildonium kaip vartoti buy meldronate online india mildonium tinnitus terminator meldronate experience synonym kas ir meldronate injection meldonium capsules review experience with the purchase of meldonium online mildronate next day delivery meldonium lowest price online mildronate pct buy meldonium cancer horoscope buy mildronate singapore mildonium tablets price meldonium for men sale in uk meldronate for acute ischemic stroke mildonium alcohol withdrawal mildonium capsules mildronate buy online uk meldonium xanax interaction where to buy meldonium with mastercard meldronate prospect ordering meldronate canada meldronate doping control what is meldonium for mildonium tablets side effects mildronate zithromax for strep mildronate doses mildonium hplc system mildronate hplc instrument meldonium numbness in left kas yra meldronate uses meldonium hplc 2016 meldonium experience synonym meldonium sport mildonium ruby mildonium doping for gold meldonium hplc chromatogram mildronate online sales ordering mildonium mexico mildronate medicine shoppe mildonium lotion in the basket mildonium online purchase mildronate wada where to buy online drugs in the mexico meldronate lv bags meldronate delivered to your home meldronate what is it to take meldronate klonopin and pregnancy kas ir meldronate capsules meldonium wikipedia cheap genuine meldonium online meldonium india no prescription mexico pharmacies online that sell mildonium non prescription birth control pills to buy meldronate juice box meldronate nootropic buy mildronate cheap meldronate medication overnight delivery meldonium yahoo finance safe to buy generic mildronate from canada meldronate youtube converter meldronate birth control online us buy medication online no prescription purchase meldronate lowest price mildronate birth control online india mildronate noprescrition needed usa online pharmacy meldonium kapsules meldonium lvs how to buy mildonium buy meldronate with a mastercard meldronate juice press buy meldonium online overnight ordering meldonium canada buy mildonium boots pharmacy mildronate what is it and how does meldonium side effects long-term mildronate lorazepam vs xanax meldonium 500mg magnesium meldronate what is it uses buy mildonium pills in the uk qingdao weilong meldonium co. ltd rx on line canada mildonium vaistai what is meldonium name buy mildronate pills in the mexico meldronate alcoholic drinks mildonium casino mildonium cycling gear mildonium drug in canada pharmacy meldronate ruger how to purchase mildronate how to take mildronate mg meldronate best online non prescription pharmacy buy mildronate tablets uk drugs similar to mildronate mildronate medication side effects meldronate generico italiano meldronate mg mexico meldronate kainate meldonium grindex submersible pump meldonium what is it deutschland mildronate buy australia meldonium benefits of mildronate hplc analysis meldronate online from canada meldonium fda jobs buy mildronate greece buy mildronate online from australia mildonium liver meldonium what is it take what is mildronate drugs mildonium zantac dosage cheap genuine mildronate online mildronate wadanohara mildronate yahoo mail mildronate experience project buying mildronate using paypal mildronate without prescrip cheap meldronate pills meldonium injection pump mildronate tablets buy purchase mildonium in australia purchase meldonium on line in india meldonium longevity physical therapy mildonium alcoholic drinks meldronate buy mexico can you buy mildronate over the counter in germany where to buy online drugs in the netherlands generic meldronate for sale on line meldronate jessica mildonium medicine online buy meldronate pills in the uk meldronate neon mildronate kegunaan meldronate drug schedule meldonium doping adsl meldonium prices cvs purchase mildonium pharmacy list of tesco stores selling mildonium mildronate to buy mildronate doping adsl meldronate wikipedia français meldonium for sale uk meldronate casper mildronate stimulant medication meldronate tablets on sale meldonium lethal dose 50 mildronate dosey mildonium cena de navidad mildronate nutritional value how buy meldronate buy meldronate pills in the india mildonium what is it how long does mildronate klonopin dosage mildronate – or mildronate mildronate buy uk basketball meldonium not generic mildronate zithromax z-pak meldonium dosen mildronate price india mildronate xanax interaction with alcohol o meldonium dihydrate symbol meldonium zantac for infants kas ir mildronate meldronate rue21 mildonium alcoholism mildonium gx no prescription generics mildonium no script meldonium dihydrate quercetin mildonium without a prescription mildronate what is it olainfarm kas yra mildronate side order meldronate overnight meldonium pills sweat where purchase meldonium meldonium amplitude mildonium lvs meldronate on line in the india meldonium uk next day delivery meldonium bodybuilding competitions meldronate msds material safety mildronate youtube videos mildonium weight gain mildonium quit claim meldonium ebay philippines mildronate what is it prescribed for discount meldonium from canada meldonium what is it effects where do i mildronate in canada mildonium pills online in the mexico meldronate stimulant where one can buy mildronate mildonium endurance direct meldonium – or meldonium mildronate lotion in the basket mildonium what is it effects no prescription needed canadian online pharmacy meldonium joint pain mildonium dosage calculator meldronate kegunaan internet meldronate 500 mg naproxen meldonium dosage instructions meldonium wada cubs mildronate for dogs buy mildronate doping control meldronate instrukcija maslini meldonium medicine wheel mildonium amphibians meldronate meldronate meldonium quite meaning purchasing meldonium online meldonium ketoconazole shampoo mildonium kaip vartoti chia mildronate no script mildonium benefits of ginger kas yra mildonium carnitine mildronate lethal dose of xanax buy meldonium in ireland o meldronate dihydrate meldonium za order meldronate from mexico without prescription meldronate yahoo messenger meldronate kainalu mildonium russia meldronate vaistai internetu meldonium injection mildonium bodybuilding diet mildronate without a prescription from us mildronate capsules for sale mildonium india pharmacy mildronate buy uk football mildronate ebay uk mildonium lotion for dry skin meldonium wada meldonium for sale meldronate cheap india pharmacy meldonium grindex dealer meldonium quito purchase generic meldronate mildronate benefits of green order mildonium pills meldronate what is it olainfarm cena mildronate benefits effects meldonium what is it how does how much will meldonium cost meldronate what is it quickly does non prescription mildonium pharmacy where to buy online drugs in the australia meldronate side effects people mildonium yahoo finance meldonium pills buy online how to buy meldronate online meldronate tablets 2016 buy 52 online meldronate dosage calculations meldonium pdf converter mildonium carnitine orotate buy meldronate perth australia where to purchase meldronate mildronate ketoconazole side mildronate klonopin medication meldronate joint commission meldronate order canada mildronate cenar mildronate wikipedia español meldronate qt syndrome in children meldonium legal buy generic mildonium online mildronate endurance purchase mildonium at pharmacies mildonium mg buy mildonium pill shortage meldonium zithromax chlamydia meldonium best online non prescription pharmacy mildronate uk companies only meldronate need to be refrigerated mildonium neon meldronate kickass where to buy mildronate mg mildronate mechanism of action mildronate buy here pay meldonium brands india mildonium buy uk surgun i want to pay some mildonium mildonium grindex pumps mildonium doses meldronate what is it take to work mildronate side effects long term where could i buy mildronate without prescription mildronate joint commission comprar mildonium en argentina buy meldonium xr without prescription mildonium fda medwatch mildronate que server
Skip to content
Powikszanie czcionki Domylny rozmiar czcionki Pomiejszanie czcionki
Start arrow Autosomalne recesywne arrow Niskorosłość Mulibrey

Menu główne



Niskorosłość Mulibrey Utwórz PDF Drukuj Wyślij znajomemu

 - nazwa zespołu pochodzi od nazw zajętych w tej chorobie narządów: mięśni (MUscle), wątroby (LIver), mózgu (BRain) i oczu (EYes).

Inne nazwy:
zespół Perheentupy
niskorosłość mięśniowo-wątrobowo-mózgowo-oczna (ang. muscle-liver-brain-eye nanism)

Niskorosłość MULIBREY to bardzo rzadka choroba genetyczna dziedziczona w sposób autosomalny recesywny, opisana po raz pierwszy w Finlandii, w 1973 roku przez J. Perheentupa i jego współpracowników. Wywoływana jest przez mutacje w locus 17q22–q23 w genie TRIM37, kodującym białko peroksysomów. Ogółem na świecie udokumentowano 110 takich przypadków, z czego 85 z nich stanowili Finowie. Rodzice wielu chorych na zespół MULIBREY było ze sobą spokrewnionych, a choroba objawia się różnie, nawet w przypadku rodzeństwa.

Objawy i przebieg

Problemy z karmieniem oraz infekcje dróg oddechowych to najczęstsze problemy we wczesnym dzieciństwie.

Na fenotyp zespołu składają się następujące wady wrodzone i cechy dysmorficzne:
• zaburzenia wzrostu o pochodzeniu prenatalnym, wrodzona niskorosłość
• czaszka z wodogłowiem
• hipotonia
• naevi flammei (znamiona naczyniowe, wytworzone z tkanki naczyniotwórczej, gęstej sieci naczyń krwionośnych, tzw. czerwone ogniste plamy, występujące najczęściej w okolicach szyi i twarzy) (65%)
• niezwykły, wysoki ton głosu (96%)
• normalna inteligencja
• twarz: łódkogłowie, trójkątny kształt twarzy, wysokie i szerokie czoło, wysokie podniebienie, mała broda i niska nasada nosa (90%)
• oczy: szeroko osadzone, żółtawe plamki w zewnętrznej połowie obwodu siatkówki, tęczówki o zanikającym barwniku, hipoplazja naczyniówki, zez, astygmatyzm
• hepatomegalia (powiększenie wątroby) (45%)
• sercowo-naczyniowe:
o zaciskające zapalenie osierdzia (u większości przypadków)
o przerost mięśnia sercowego i jego zwłóknienie
o niewydolność serca u przynajmniej 50% pacjentów
• dysplazja włóknista kości długich (25%)
• hipoplazja języka (80%)
• nisko osadzone i zrotowane ku tyłowi małżowiny uszne (54%)
• stłoczenie zębów (50%)
• wysoka linia włosów (45%)
• szerokie szwy czaszkowe i ciemiączka w okresie niemowlęcym (37%)
• nieprawidłowo szeroki szew czołowy (31%)
• rozszczep podniebienia (2%)
• cienkie kończyny (99%)
• wydatna lordoza lędźwiowa (96%)
• ogólna delikatność budowy (95%)
• wąskie ramiona (94%)
• mała, dzwonowata klatka piersiowa (94%)
• beczkowaty tułów (92%)
• słabo wykształcone pośladki (52%)
• stosunkowo krótsze proksymalne odcinki kończyn (90%)
• stosunkowo duża głowa względem wzrostu (81%)
• duże dłonie i stopy względem wzrostu (67%)
• asymetria kośćca (15%).

Objawy radiologiczne

pogrubienie kości skroniowej i czołowej (90%)
płytkie J-kształtne siodło tureckie (89%)
zrotowane bocznie oczodoły (80%)
mała, hipoplastyczna twarzoczaszka (71%)
hiperteloryzm oczny (64%)
poszerzenie światła komór mózgowia i zbiorników płynu mózgowo-rdzeniowego (43%)



Ochrona Prawna


Zjazdy i seminaria