price actonel costco accutane price at walgreens ginseng online order vendita rosuvastatin tablets ip 5mg sublingual cialis online order imuran online you low cost prilosec dosage viagra no prescription next day delivery zetia med generic naprosyn 500mg totaldrugmart com buy accutane online acne.org methocarbamol online buy lithium orotate australia buy zithromax in stores clavamox for dogs with no prescription buy sildenafil without a prescription canadian drug pharmacy online imagenes de futbol con pensamientos synthroid dosage 0.05mg cost singulair generic cialis 5 mg daily effectiveness viagra generico indiano purchase lipitor vegas kamagra uk next day lasix tablet muadili buy roofie zetia online pharmacy actos non perscription infection treatment yasmin price india viagra sale uk mail order generic bactrim for acne trazodone pill sizes venta on line la viagra mas barata how to get clomid in ireland buy keppra xr 500mg price of cialis 10mg buy diovan uk viagra in bangkok voltaren buy online maxalt over the counter have buy topamax online cheap cheap valtrex for sale order promethazine online generic wellbutrin canada sevrage codeine cipromexico viagra 100mg over night zerit non perscription diuretic buy flomaxtra tamoxifen buy online keppra japan canadian pharmacies for viagra expiry date of viagra purchase aricept purchase cialis online cialis 20 mg, no perscription valtrex medication price buying nolvadex canada cipro 1a pharma 500 mg rezeptfrei diovan generic date 2012 ciallis non rx cialis generic clomid walmart healthy man viagra without prescription promethazine 6.5 mg plavix generic us diovan tablets price revatio 20 mg kosten sertraline en espanol best prices for legal levitra clomid buy online buy celexa generic speman tablets 100 vytorin generic promethazine buy online no prescription orlistat products buying cialis in singapore generic isotretinoin in canada levitra billig kaufen much does viagra cost mexico 266 can i buy cialis in singapore 90 buy cheap kytril nedir generic diclofenac epolamine chlonidine no pres generic plavix to buy ketoconazole tablet price wellbutrin price in egypt can i buy fluconazole in boots generic synthroid cost generic plavix ticlopidine buy levothyroxine sodium online vardenafil cheap 5 mg price cialis cheapest price viagra rizatriptan generic craigslist manchester antibiotics by mail long term side effects of cialis buy warfarin cheap no prescription side effects of levothyroxine 75 mcg lopid non prescription can i buy viagra in colombia 49 healthcare alliance consumer reports how to get viagra discreetly seroxat withdrawal canadian cialis buy clomid cheap steroid buy diflucan cheap no prescription cilis wiarga levitra order xenical canada hydroxyzine buy buy cheap cialis online non prescription viagra australia duloxetine 20 mg buying doxycycline ups delivery how to make codeine finasteride generic price viagra tablet can use in cooldrinks where can i buy femara uk where to order viagra on line atlas rx cialis aunty buy trazodone online no script norvasc twice a day xenical uk shortage accutane cost in australia buy roacutan evecare capsules and pregnancy where to buy zanaflex the internet how to use viagra recreationally metformin suppliers india buy cialis online blog cymbalta pill appearance accutane in uk promethazine pill cost cymbalta generic south africa order prednisone online from india dosage sildenafil price plavix medication abilify 10 mg schizophrenia propicea online india diflucan online cheap xbox crestor cheap prescription does cialis 5mg work advair 250/50 cost norvasc generic india generic finasteride prescription price celebrex 400 buy codeine promethazine cough syrup wholesale generic ralista petkova buy xenical generic nolvadex price in pakistan buy ventolin evohaler 100 micrograms cialis cialis online buy ventolin inhaler asda itschapala topamax tablet 25mg viagra soft tabs keppra tablets 1000mg men who hide taking cialis from wife is nymphomax available in kerala strong viagra 100mg best natural viagra walmart generic drug list 2013 xenical suppliers uk ventolin by mail buy zepose online da sutra 30 review cvs pharmacy price for cialis viagra plus review buy xenical america buy cheap indocin dosage flomax cheaper generic zithromax for chlamydia worldwide pharmacy kamagra silagra 100 mg in albania cipla web flash buy online xenical orlistat buying clomid cheap online abilify lowest price xperia flagyl runny nose dog naprosyn pill protonix rx legally buy pain pills avanafil buy amsa fast orlistat reviews order antabuse online day delivery prilosec prescription price what is flagyl used for std canada yasmin birth control generic cialis india safe zoloft coupon discount diovan 320 mg principio ativo buy zithromax z pack antibiotics buy omeprazole china generic pay pal isotretinoin 5mg zetia 90 clomid without progesterone xenical sale online buy generic cymbalta online cipro hc cost cheap meds online without prescription viagra radio ad generic zyrtec syrup price albuterol no perception needed ventolin inhaler and prednisone duphaston risedronate canada pharmacy januvia without prescription low cost aricept pill promethazine buying inderal over the counter version wellbutrin 450 mg seizures cymbalta 60 mg twice daily norvasc 05mg pink viagra wiki comprar proscar online andorra viraga generic cialis t20 order propecia australia buy singulair 4mg cost of diovan at cvs crestor 40 mg price in india buy viagra online viagra can lipitor pills be cut in half buying omeprazole in uk generic nexium omeprazole viagra online ratings sertraline generic of metformin dosage to get pregnant generic topiramate online 200 advair us pharmacy buy meloxicam uk accutane 20 mg price in pakistan accutane buying it online generic nexium alternatives promethazine purchase online nexium cash cost 24 hour walgreens near me buy fortamet 500 mg nexium cost savings prednisone tablet shortage buy claritin d no prescription augmentin equivalent india zovirax iv price orlistat to buy uk generic viagra online canadian pharmacy clomid 150 mg and ovidrel health canada lipitor recall can i buy femara over the counter xenical cumpara online flagyl 500 valtrex interactions viagra fast delivery generic inderal makers actonel costco price generic lisinopril hctz 20-12.5 doxycycline cost at publix dr reddy finasteride buy buy tamoxifen uk buy benazepril hydrochloride australia glucotrol cheapest price xl how can i get imuran lupus generic flomax online pharmacy differin 0.3 buy acyclovir (zovirax) free viagra sampe valacyclovir liquid wellbutrin generic xl 150 mg can i buy diflucan at walgreens fbs without tetracycline expiry of viagra pills isoptin online cheap outlet cheap advair online no rx valtrex 500mg celebrex help with cost viagra rx in canada buy ventolin england buy pet prednisone buy finasteride pharmacy cheapest price on silagra cipla desyrel venlafaxine original viagra for sale celexa generic brand buy proscar 5 mg accutane 30 mg daily topiramate india suppliers buy lamotrigine online no prescription viagra with mastercard lilly cialis in canada flomax mg cialis 20mg long does last doxycycline hydrochloride india periactin online order and cheap generic voltaren canada actonel 35 mg price cheepest viagra propecia bestellen toradol 10 mg compresse prezzo suhagra50 funginix prezzo generic valtrex 500mg misoprostol pill where can i get it clomid without period first buy trazodone online overnight cialis professional online australia forced ejaculation buy topamax drug where can i purchase shallaki ayurveda megacef generic lithium citrate brand valtrex pill size femara discount card order lasix online phentermine 37.5 mg canada cost of lexapro buy promethazine and codeine zyprexa 7.5 mg tablet imitrex zofran p que serve o medicamento sertralina nexium medication uses yasmin price uk prednisone without rx ciprofloxacin tab use cialis poland prednisone price india nolvadex tablets india tamsulosin thailand clomid sale cheap ppw viagra propecia buy brand dog antibiotics without perscription cost abilify 10 mg buy pfizer viagra uk buy happy male viagra septra and jock itch discounts on viagra crestor 20 mg price india avodart buy online canada order serevent online with prescription isotretinoin coupons uk pharmicist prednislone zopiclone antibodies without a precription buy best quality of minocycline vk blue viagra coumadin us pharmacy cialis price per pill propecia generico paypal nexium cost at walgreens price isotretinoin pakistan lasix 40 mg price in india cialis 5 mg discount acyclovir prescription cost free sample herbal viagra cialis sale usa tamsulosin 0.4mg cap buy cymbalta in india ourcanadianpharmacy healthpoint the little blue pill review legit online pharmacies doxycycline pill for acne sex power teblet name cost diovan hct without insurance buy voltaren emulgel accutane price generic cialis prices at pharmacy zithromax suspension cost taking 40mg of cialis online clomid with fastest shipping reliable viagra site cost keppra 750 mg minoxidil shampoo buy duloxetine 20mg bing quality online viagra canada canadian pharmacy no prescription pets buy methocarbomol online ciprodex without prescription clomid 150 mg jumeaux buy cheapest online place viagra online pharmacy with no prescription order celadrin back diflucan no prescription needed pfizer viagra no prescription buy metformin from mexico where to buy avodart antifungal cream pfizer viagra free samples welbutrin by mail topamax xl cealus buy metformin from canada four corners pharmacy new zealand application of ciprofloxacin synthroid pill 125 cialis pro online with out presciption price zyrtec australia isotretinoin cheap online tetracycline teeth uk toradol generic and trade name amoxicillin mg kg pediatric order from phone amoxicillin buy cheap cyklokapron uk over the counter antibiotics order viagra without a prescription kamagra next day uk delivery how can i get samples of metformin how can i get bupropion in the uk donde comprar silagra looking to order viagra sandoz pramipexole 0.25 erection packs online cheap australia voltaren forte side effects diclofenac 50mg tablet aciclovir 200 mg para varicela topamax false positive pregnancy test metformin extended release uk can humans take fish amoxicillin kaytee kaboom in omaha ne buy lasix 80 mg furosemide tablet description buy lasix online from canada viagra in liquid form order avodart europe discount wellbutrin xl online zoloft online prescription cheapest place to buy cialis levaquin online prices augmentin price check canada mail order rx buy strattera antifungal cream over the counter nitroglycerin ointment topmed shop24 buy voltaren rapid where to buy flomax you online usa pharmacy no prescription buy metronidazole online buy online isotretinoin gel ventolin cheapest price hfa metformin hcl 500 mg generic cost lasix 40mg buy generic levaquin online buy accutane at spray generic celexa canada liponexol online cheap uk accutane information cialis trial packs express shipping ciprofloxacin tablet adalah lexapro price walmart guardian pharmacy singapore generic levetiracetam drug nizagara pills buy claritin-d naprosyn price australia clomid 3-7 canadian generic drugs divalproexbest prices costco how to buy cialis cheap purchase avodart online hydroxyzine no prescriptions viagra 100 rezeptfrei bestellen uk esomeprazole i missed 2 dosage id clomid cheapest price on gasex himalaya actonel xanax metformin overnite delievery promethazine hcl 12.5 mg uses viagra charlotte nc wellbutrin xl from canada ciprofloxacin tablet strength how much does propecia cost diovan without script viagra and cialis combo pack overnight viagra us pharmacy compare lipitor to generic celexa tablets original online viagra cipralex e pantoprazolo buy lantus in canada for us buy antibiotics 250 buy plendil seroquel lowest price with insurance need to by cipro 500 milligram fexofenadine price 60 mg order zoloft without script ventolin generic inhaler ciprofloxacin tablet dosage prednisolone buy online uk where can you buy cialis over the counter retail price for abilify advair 500-50 diskus il viagra puo essere mutuabile sale yasmin crestor cost nz allegra k canada augmentin dosage australia kamagra online co uk cheap saw palmetto joint pain femara tablets buy
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