cialis 20mg 4 st haldol online pharmacy uk prednisone 20mg dosage kamagra 100mg pris buy aspirin visa purchase styplon cheap cialis 100mg wirkung cheap cialis uk buyers of bactroban canada buy zetia quick which is better viagra levitra cialis what does aleve do to dogs zithromax online ordering strattera discounted prednisone 20mg day cipro 500mg 127 no rx zestoretic online propranolol 10 mg pliva strattera dosage for children ephedraxin 20mg tab billig differin online kaufen xenical barato tetracycline hydrochloride 500 mg what does septilin is voltaren gel good for back pain pulse pharmacy online store safe abilify no precription viagra 1oo mg cialis 2 5mg preis acheter code xbox live pas cher precio de cicloferon spray order rogaine 5 overnight nolvadex forum order buying viagra hyderabad hyzaar medication disulfiram purchase uk viagra online dhl buy nexium online from canada seroflo lawsuit nolvadex tamoxifeno 10 mg is mail order risperdal safe generic aleve usa pharmacy levitra 5mg bayer tadalis sx generic release date cardizem roche precio argentina can you buy aleve in canada dulcolax suppository drug classification requip tablets 40mg cialis 10mg nebenwirkungen buying lexapro australia university of florida online pharmacy technician training program ordering procardia here in canada buy viagra italy micardis shortage clomid canada companies only arava institute kibbutz ketura ortho tri-cyclen weight gain where to buy effexor xr in canada safely buying colospa from canada no prescription generic innopran xl cost kamagra buy australia purchase generic zoloft cialis 1800 mg aspirin best price cialis online opinioni buy vermox pills anafranil 25mg dosage levitra 5mg generic vytorin 10/10 starting zoloft 100mg xenical without a perscription plendil wikipedia glucotrol xl uk buy generic cialis.net atacand double dose nexium 20mg tabletten premarin generic reviews tetracycline antibiotics india generic uk paypal minomycin viagra de 25 mg cialis 5 vs 10mg permethrin cream scabies side effects lotrisone pharmacy prices list proscar lawsuit canada levitra 10mgcena skelaxin recreational dose where to buy finasteride no prescription nexium de 40 mg zetia online sales mail order nexium order fluoxetine from india without prescription viagra generic ed what does lexapro look like indocin side effects pregnancy viagra femenina de venta en farmacias buy alli pills at walmart pharmacy is unisom sold in canada pcod diet mastercard generic viagra hyaluronic acid serum buy online brand advair diskus from usa buy nolvadex aus effects 200 mg viagra generico synthroid merck information on lisinopril medication atenolol dosage for anxiety viagra rezeptfrei kaufen holland wellbutrin xl cost cvs purchasing zovirax online uk stieva-a tretinoin cream 0.01 sinemet 100mg cheap hydrochlorothiazide over the counter usa buy rumalaya forte online india buy cialis professional have no prescription cialis 20mg cijena prednisone 10mg purchase levitra 10 mg solubile preis zithromax 500mg where can i buy valacyclovir ventolin albuterol same ordering ceftin uk lady era from usa pharmacy ventolin hfa walmart price pletal from europe buy acticin pills in the canada max requip dose lady era prescription coupon vpxl online mexico nolvadex o generico to buy diclofenac gel +nizagara to buy online serophene discount voucher pyridium 100 mg side effects artane castle credit union buy zovirax mexican pharmacies wikipedia cialis generico prilosec prices walmart accutane now illegal doxycycline 600 mg 20 mg doxycycline acne neurontin 100 what is bactrim good for buy tofranil usa paypal generic propecia generic nexium mexico how to buy trileptal in london celebrex 200 mg generico red cialis 200mg 5 mg prednisone dog buy etodolac in usa ed meds online review orlistat to buy lasix 500 mg pret nolvadex 10mg bula promethazine for daily use canada order cialis soft rx where do i buy cytotec original propecia online what is prilosec made of buy genuine propecia female cialis generico xenical farmaco generico buy poppers and viagra calan uses medication mail order lexapro cuando usar provera purchase avodart in canada female cialis lowest price 500 mg of doxycycline lipitor canada buy buy discount order abana vpxl medication online donde puedo comprar ciplox tetracycline medication side effects myambutol cost in canada warfarin alcohol advice lukol pills buy childrens motrin online lexapro 20 mg sleepy adverse side effects of accutane prednisone 5mg chat viagra with dapoxetine online cialis 20 mg used feldene drug class methotrexate tablets 10mg hydrochlorothiazide 25mg no prescription what does it mean when viagra doesnt work casodex 150 mg dosis allegra dose otc purchase aciclovir one 200mg ciplox echeck norvasc price canada doxycycline dose for mycoplasma pneumoniae viagra online discussion allnightbuy viagra online order levitra online cheap accutane 5 mg online to buy himcocid in uk zyrtec not working now what generic viagra real cialis notice20mg cialis generic opinie augmentin 625mg dosage buy silagra 100 drugs approved in europe but not us buy canadian pharmacy online best place to buy citalopram betnovate cream amazon best site get famvir original minomycin online clomid anxiety disorder professional cialis 100mg buy zithromax australia generic lexapro 2012 vs brand name buy bystolic quick buy cheap norvasc pills purchase viagra 150 mg glucophage discount card generic name for alesse 28 ethinyl estradiol doxycycline 50 mg kaufen buy abilify pills in the us pharmacy mexico levitra super active how long after finishing azithromycin can you drink alcohol dutas now mometasone furoate ointment usp .1 cialis costs 5mg citrato viagra wellbutrin online vytorin modo de usar propecia .25mg results z pack 500 mg instructions cytotec de genericos pyridium from usa pharmacy kolkata viagra buy diflucan sospensione 350 mg pfizer pharmaceuticals london uk levitra online retail kabdungan celebrex 300 mg voltaren 500 mg current price diltiazem online viagra pharmacies prazosin generico online medicinale xenical 120 mg levitra super active 10 mg viagra taking 150 mg generic eulexin switzerland 50 mg doxycycline liquid how long to get buspar out of system brand levitra sale 100mg cialis where do i colchicine in australia doxycycline 100mg zon zovirax shipping overseas prednisone sale online where can i buy midamor in canada generico viagra comprar how to order abana xeloda price us order vasotec online no prescription with a mastercard zyvox dosage administration iui clomid 100mg metoclopramide paypal viagra 800 mg wiki generic ralista in usa forzest legal in england where to buy cheap generic minocycline levitra 20 mg. orosolubile medicament levitra 10 mg overseas pharmacy no prescription lipothin cheap amaryllis bulbs for sale effexxor no script lexapro online prescription prescription is generic alavert effective kamagra 800 mg viagra cheapest online buy viagra singapore protonix from australia cialis mexico online purchase methotrexate 25 mg buy cozaar patch florinef canadian pharmacy voltaren user reviews what 5mg cialis cheap atorlip-5 remedio lexapro 20mg zenegra brand positioning take 2 cialis 5mg no rx grifulvin v online what is meclizine hci 25 mg used for buying zoloft in manchester kamagra chewable no prescription compare prices what is diovan hct 160/12.5 order erection packs 1and thing 2 from cymbalta costco price fairy tail requip magic celebrex 200 mg pricing buy dipyridamole with visa fincar for dogs buy otc substitute for valtrex where to get abilify pct florida hoodia generic viagra testosterone 100 millagram cheap viagra generic ralista us can you buy nexium over counter clonidine limited india ventolin 100 mg spray lasix iv 40 mg harga salep chloramphenicol clozaril in italia zoloft discontinued viagra online xplosion amoxil 250 mg capsule lamictal generic equivalent birth control pills online store how to take acai berry tablets levitra professional sublingual dosage femara sale l-tryptophan overnight pharmacy order clomid online legal buy antidepressants online plavix drug wiki herbal viagra in singapore nolvadex uk boots augmentin suspension 200 mg clavamox antibiotic human import af propranolol ed medication for sale over the counter kamagra is metoprolol safe in pregnancy what is the mechanism of action for methotrexate buy nymphomax new zealand online generic viagra connecticut purchasing viagra online viagra online forums cheapest 200mg cialis viagra 50 mg price donde comprar cytotec en cali colombia pharmacy buy drugs cialis soft 200 mg generic viagra side effects of tegretol overdose viagra de 50 mgs licensed pharmacy xenical cipro 1000 mg uti buy himcolin in ireland celebrex buy canada xenical 120 mg walmart buy clomid online fast shipping buying confido where to buy eurax yasmin 100mg cheap lisinopril 10 5 mg cephalexin drug store online nexium esomeprazole buy exelon american lung association buy zovirax ointment 5 xeloda discontinued prednisone 60 mg dosage cabgolin generic what is allegra medication generic viagra artcle toprol xl 50 mg price dividere levitra 10 mg ordering valtrex canada diclofenac gel over the counter can you get estrace buy generic azithromycin online lopid not generic levitra 40mg effectiveness lantus glargine side effects buy elavil online cheap dosage valtrex 500 mg lexapro generic antidepressant metformin 1000mg tab overnight medicine viagra delivery erythromycin 500 mg tablets side effects se puede comprar viagra en farmacias sin receta levitra 200 mg 1700 mg metformin buy cheap per pill clomid without online viagra kopen generic cialis uae is there a drug comparative to diclofenac buying baclofen chloramphenicol tablets dosage lamisil comprimidos precio generic triamterene hydrochlorothiazide oral lasix 500 mg price propranolol actavis 40mg propecia 3 mg use bystolic coupon online nexium 80 mg iv viagra 150mg cheap glucotrol dosage forms how to buy benzac in london ventolin 40 mg pharmacy levitra usage directions doxycycline 200 mg tab torsemide generic release date buy cheap alligator shoes skin online kupovina xenical 50 mg zoloft enough buy singulair mexican pharmacies reviews on yasminelle brand levitra with american express generico priligy portugal women taking viagra effects placebo best place buy viagra jelly pct finasteride without rx propecia online paypal 180 mg of lasix zithromax 1000 mg dosage viagra 100mg online tetracycline hydrochloride generic anafranil mist canada need viagra pills cialis and 2.5 mg cardizem discounted retin a gel no rx switching from adderall to strattera amantadine free or low cost cephalexin buy zyrtec capsules vet meds finasteride propecia free sample order himcolin tablets nootropil brand positioning cialis dose size buy zaditor uk buy zoloft forum where do i elocon in canada janssen cilag product pipeline order propecia 1mg viagra 1800 generic viagra bayer 100mg viagra paypal india generic viagra acheter alliance pas cher coreg to buy propranolol 20 mg uses what does generic mobic look like zaditor india ordering zyban online bupropion what does toprol-xl treat top 10 online stromectol sites benzac ac 100 mg g flomax medicinenet purchase anafranil in usa american express corporate canada contact cheap finax sale uk kamagra postorder can you order lamisil buy online zithromax valtrex 500mg generico apcalis sx tablets canada order adalat pharmacy costco online pharmacy calan forcat apartment our cheap maximum benadryl dose for dogs lisinopril buy cheap diclofenac potassium side effects how to use fucidin ointment clomid success stories 100 mg buyers of dapoxetine canada eurax 5mg tablets costco pharmacy purim price cheap metformin online lexapro generic timing viagra online indian amlodipine besylate 10mg generic bactrim s,urup 200 40 mg fast yagara deleviery lexapro noprescrition needed usa online pharmacy brand nymphomax buy guaifen codeine syrup effects grand order of calanthe which uk site to buy silagra nolvadex online cheap cialis 20 mg generic buy levitra ups geriforte legal in england novolog coupon vial current gold price in india live billig aygestin online kaufen actonel spain aricept uk patent pfizer viagra patent u.k generic pills for haridra glucophage sr 1000 mg generic zoloft 100mg side effects keflex during pregnancy safe cheapest valtrex cephalexin syrup dose for children canada drugs no prescriptions needed buy cialis where buy tenormin inexpensive generic viagra can you only get wellbutrin on prescription top 10 online seroflo sites isoptin 240 mg flagyl er lawsuit canada
Skip to content
Powikszanie czcionki Domylny rozmiar czcionki Pomiejszanie czcionki
Start arrow Autosomalne recesywne arrow Niskorosłość MULIBREY

Menu główne

Genetyka

Różne

Niskorosłość MULIBREY Utwórz PDF Drukuj Wyślij znajomemu

http://www.patient.co.uk

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

Inne nazwy:

MUL
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

piecz_prewencyjna_koksztys.jpg

Zjazdy i seminaria

Zespoły