Las iimpawu ze-Edward syndrome Zifana nesifo esibi kakhulu.Ngokwezibalo, abantwana abathwaxwa sesi sifo abafikeleli kunyaka wokuqala wobomi. Ikwabizwa ngokuba yi-trisomy 18, sisifo esine-prognosis embi kakhulu.
I-Edward syndrome izibonakalisa ngoluhlu olude lweempawu kunye nokuphazamiseka. Oku kungenxa yokuba sisifo esiguqula ukukhula okuqhelekileyo komzimba wosana.
Yintoni Edwards syndrome
Zintoni iimpawu ze-Edward syndrome? Sisifo esixhaphake ngokufanelekileyo esiye sathiywa ngegama lengcali yemfuzo eyasifumanisayo. Kuqikelelwa ukuba ichaphazela umntwana om-1 kubantwana abazalwayo abangama-5, ingakumbi ababhinqileyo. Edwards syndrome ngowesibini phakathi trisomies, ngasemva Isifo esiPhantsi.
Sisifo sokuzalwa esibangela iziphene zemfuza. Utshintsho lwenzeka ngokuchanekileyo kwichromosome 18, njengesiphumo setrisomy okanye uphindaphindo. Ngenxa yesi sizathu, esi sifo saziwa ngokuba yi "trisomy 18". Kwiimeko ezininzi, ukukhulelwa akufikeleli kwixesha ngenxa yokuba i-trisomy ngokwayo ibangela ukukhupha isisu ngokuzenzekelayo ngexesha lesibini kunye neyesithathu.
Nangona kukho inani leempawu. kukho ezintathu Edwards syndrome subtypes, ngokwendlela okwenzeka ngayo i-trisomy. Ngaphandle kwemeko, babelana ngomfanekiso onzima: umzimba womntwana awukhuli ngokufanelekileyo, okukhokelela kwiziphene zomzimba ezininzi. Amanani athetha ngokwawo: kuphela i-7,5% yeentsana ezifunyanwe ziphila ixesha elingaphezu konyaka.
Iintlobo zetrisomy
Ngaphakathi kweyiphi i-syndrome okanye utshintsho kwi-chromosome, kukho ezahlukeneyo iimpawu ze-Edward syndrome. Ngoko ke, yahlulwe yaba zithathu:
I-trisomy epheleleyo okanye eqhelekileyo: yeyona ndlela ixhaphakileyo apho isifo sibonisa khona, kunye ne-trisomy ye-chromosome 18 ekhoyo kuzo zonke iiseli zomzimba. Lolona hlobo lunobuzaza kuzo zonke. I-trisomy engaphelelanga
Luhlobo olunqabileyo apho i-syndrome ibonakala kwaye ibangelwa ukuphindaphinda okungaphelelanga kwechromosome. Ngokubanzi, ezi meko zibangelwa kukuqhekeka kwechromosome 18 kunye nomanyano lwenxalenye eyahluliweyo kwichromosome eyahlukileyo. Ngenxa yoku, iimpawu zahluke kakhulu kuba zisondelelene kumacandelo ekhromozomi aphindiweyo. Olu didi lungaphantsi alukho bunzima kakhulu kunolu lwangaphambili.
Ekugqibeleni, kukho i-mosaic trisomy. eyenzeka xa ichromosome eyongezelelweyo 18 ingafumaneki kuzo zonke iiseli zomzimba wosana, kodwa kwezinye kukho iikopi ezi-2 kwaye kwezinye 3. Nangona kule meko ingozi yokufa ngaphambi kwexesha isephezulu kakhulu, abantwana abanolu hlobo luncinci baneempawu ezimandundu okanye ezithambileyo, okanye zingabikho kwaphela.
Edwards Syndrome Iimpawu
Phakathi kweempawu kunye neempawu ze-Edward Syndrome zezi zilandelayo:
- Ukonakala kwizintso.
- Ukonakala kwentliziyo.
- Ubunzima bokutya.
- I-Esophageal atresia (ummizo awudityaniswanga nesisu)
- I-Omphalocele (amathumbu aphuma emzimbeni ngenkaba)
- Ingxaki yokuphefumla
- I-Arthrogryposis (ubukho beekhontrakthi kumalungu, ngokukodwa kwiindawo ezinqamlekileyo).
- Ukunqongophala kokukhula kwasemva kokubeleka kunye nokulibaziseka kophuhliso.
- Ama-cysts kwi-choroid plexuses, evelisa i-cerebrospinal fluid; Azibangeli iingxaki kodwa ziluphawu lwangaphambi kokubeleka lwe-Edwards syndrome.
- Imicrocephaly.
- I-Micrognathia (i-mandible encinci kunokulindelekile).
- Harelip
- Ukungahambi kakuhle ezindlebeni.
- Amehlo abanzi, amancinci, athobileyo.
- Isifuba siphuma kwindawo ye-sternum.
- I-sternum emfutshane ngokungaqhelekanga
- Ukungabikho kweradius, ebekwe kwi-forearm.
- Izandla zivaliwe kwaye ziboshwe ngeminwe ewelanayo.
- Izithupha nezikhonkwane ezingaphuhliswanga kakuhle.
- Iinyawo eziconvex
- Ubukho bemitya edibanisa iinzwane.
- Kumadoda, amasende akehli kakuhle.
- Ukukhala obuthathaka
- Ukukhubazeka kwengqondo okumandla.
I sEdwards syndrome inokubonwa ngokwenza amniocentesis. Ngaphantsi kwe-10% yabantwana abane-syndrome bazalwa bephila. Kwaye ukuba benza, i-90% ifa kunyaka wokuqala wobomi, ngokuqhelekileyo kwiveki yokuqala.