Cov txheej txheem:
Video: Cov tsos mob ntawm Beckwith Wiedemann syndrome yog dab tsi?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Cov cim thiab tsos mob ntawm Beckwith-Wiedemann syndrome suav nrog:
- Loj loj rau me nyuam mos.
- Liab hnub yug cim rau ntawm lub hauv pliaj lossis tawv muag (nevus flammeus)
- Creases nyob rau hauv pob ntseg lobes.
- Tus nplaig loj ( macroglossia )
- Cov ntshav qab zib tsawg.
- Abdominal wall defect (umbilical hernia or omphalocele )
- Kev loj hlob ntawm qee yam kabmob.
Tsis tas li ntawd, dab tsi ua rau Beckwith Wiedemann syndrome?
Feem ntau ntawm Beckwith - Wiedemann Syndrome: Cov tsos mob yog ua los ntawm kev cai txawv txav ntawm cov imprinted noob nyob rau hauv BWS tseem ceeb cheeb tsam (IC1 thiab IC2) ntawm chromosome 11p15. 5 ua los ntawm ib qho ntawm ntau qhov kev tshuaj ntsuam genetic. Kwv yees li 10% mus rau 15% ntawm cov neeg cuam tshuam yog ib feem ntawm cov tsev neeg uas muaj ntau tshaj ib tus neeg cuam tshuam.
Qhov thib ob, tsawg npaum li cas yog Beckwith Wiedemann syndrome? Beckwith - Wiedemann Syndrome: Cov tsos mob tshwm sim hauv kwv yees li 1 ntawm 11,000 tus neeg yug, nrog txog qhov xwm txheej sib npaug ntawm cov tub thiab ntxhais. Txawm li cas los xij, vim cov me nyuam uas muaj mob me me ntawm cov tus mob yuav tsis tau txais kev kuaj mob ntawm Beckwith - Wiedemann Syndrome: Cov tsos mob lossis 11p nthuav dav ntau ntxiv, daim duab no yuav yog qhov tsis xav txog.
Ib yam nkaus, tib neeg nug, puas yog Beckwith Wiedemann syndrome xiam oob qhab?
Qee zaum cov menyuam yaus lossis cov neeg laus nrog Beckwith - Wiedemann Syndrome: Cov tsos mob los yog cais tawm hemihypertrophy tuaj yeem xav tias tu siab, ntxhov siab, lossis npau taws. Qee tus neeg nrog kev hloov pauv uas ua rau Beckwith - Wiedemann Syndrome: Cov tsos mob tuaj yeem muaj teeb meem tau txais xiam oob qhab kev pab them nqi kho mob, kev pov hwm lub neej lossis pov hwm kev saib xyuas mus sij hawm ntev hauv qee lub xeev.
BWS yog dab tsi?
Beckwith-Wiedemann syndrome (ua BWS ) yog kev tswj hwm kev loj hlob tsis meej. Cov me nyuam nrog BWS kuj tseem yuav muaj hemihyperplasia, uas qee qhov ntawm lub cev loj dua ntawm ib sab dua li ntawm lwm qhov. Cov yam ntxwv tseem ceeb ntawm BWS , macrosomia thiab macroglossia, feem ntau tshwm sim thaum yug los.
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