Cornelia of Lange chirwere: photo, zvinokonzera, zviratidzo, chirwere, fungidziro, upenyu anotarisirwa, kurapwa

Vakawanda kuchikoro bhayoroji zvidzidzo yeuka kuti majini mashoko chinopfuudzwa kubva baba mai nevana vavo, ari yevanhu genome inoumbwa 23 yegwara okutodza. Rine anenge 28,000 majini, chimwe nechimwe kunokosha inokosha basa paumbwe dzemuviri. Mutational kuchinja chete mumwe wavo anogona kutsamwisa Cornelia of Lange chirwere, mumwe chisingafadzi chaizvo, uye kazhinji kacho uye chaizvo chirwere chakakomba, kazhinji zvichiita kuti rufu. vanyori vakawanda vanoti kuti avo vanenge chirwere ichi havana mukana. Asi usaora mwoyo, nokuti sayenzi yemazuva uye mushonga kusika zvishamiso chaivo.

Mabviro ezwi rokuti

Cornelia of Lange chirwere ainzi inomutevera kuti hunonyatsodonongodza wevana rinonzi Cornelia of Lange, ari 30s remakore rechimakumi maviri aigara uye aishanda muNetherlands. Ari mukati maro tsika vakachengeta 5 Pakadaro, kokupedzisira vaviri chete vasikana vakanga vasiri voukama. Muna 1933, Cornelius akatora rondedzero uye kuguma ake zvaakacherechedza. Asi zvikuru apfuura (muna 1916) ndiyo chete chirwere chirwere uye anorondedzerwa zvakadzama chiremba German W. anonzi Brahman, saka dzinowanzotaura zita anonzi Brahman chirwere - Lange. Uyezve, zita nevakawanda pamusoro urwere pakati Amsterdam, sezvo guta yakanyorwa vana vatatu chete, vaakawana zvokurwara ichi. mazita All vatatu - ndimumwe uye zvakafanana chirwere. Unowanikwa pamusoro ose kondinendi, vanhu vemarudzi ose uye emadzinza, zvakafanana kakawanda muna vakomana nevasikana zvakafanana. Kweanenge makore zana kubva tsananguro wokutanga, taidzidza muudzame 400 vanenge chirwere ichi.

Anomalies romusoro uye ganda

Cornelia of Lange chirwere chinogona vanofungidzirwa kubva maminitsi upenyu mwana wokutanga. Primary zviratidzo:

1. Low yokuberekwa uremu (anenge 2/3 pamusoro dzose).

2. Anomalies of dehenya:

- microcephaly (dehenya vanenge 10% shoma pane dzose (98% wevarwere);

- brachycephaly (kuwedzera transverse divi (upamhi) yeDehenya hama wayo longitudinal miganhu);

- rutapudzo uropi musoro.

Vanopfuura hafu vacheche vanochengeta yakawedzera pilosity shure, uye dzimwe nguva muviri wose. Ganda vacheche pane anenge 2/3 cyanotic semufananidzo nezvakanaka midziyo viewable (marbling ganda), asi chiratidzo ichi hachisi dzinonetsa nechirwere chirwere ichi.

chiso anomalies

Kuremara pamusoro pechiso achangoberekwa ndivo kupfuura noutano nzira rokuongorora Cornelia of Lange Syndrome. Photo mwana pamusoro rinonyatsoratidza ichi. A yakatsauka kubva akagamuchira dzemunharaunda vari:

- zvakanaka kunorondedzerwa se yakavhomorwa nechapamusoro, converging pamusoro bhiriji (99% nyaya);

- akanaka, refu lashes, kazhinji recurved (99%);

- mhino duku, izvo mhino protrude mberi (88%);

- yakafara uye mungarava nasal Bridge (88%);

- muromo pamwe ashaye makona (94%);

- kure unconventionally guru pakati mhino uye miromo;

- yakaderera-yakatarwa nzeve;

- hypoplasia (hypoplasia) repasi rushaya (84%);

- zvakare pasi riri pahuma uye / kana nape komuganhu bvudzi (94%).

The pamusoro zvarakasiya pachiso achangoberekwa wacho anogona kupinda zvose kana ungavapo chete shoma.

Anomalies of zvomukati

Hypoplasia (underdevelopment), uye pathological nenyonganiso pakugadzirwa zvomukati ndiwo ngozi huru hwevana kuti vave kuzivikanwa Cornelia of Lange syndrome. Chirwere zvinosanganisira MRI, X-ray, Ultrasound, rhinoscopy, cytogenetic kuongorora uye nedzimwe nzira dzemazuva ano.

In chirwere ichi chinogona kuonekwa:

- choanal Surgery, kana kupfuura kungoti, mhingaidzo pamusoro nasal mhango (zvokurwara iri zvachose kwete nechokuita of Lange chirwere uye nyore chirwere ne sei mwana ari kufema kana achishandisa vachiongorora);

- kuremara marongerwo mwoyo (vascular malformations, mavharuvhu, baffles);

- gastrointestinal chirwere (cecum chinjwa, nevamwe);

- kuremara of urogenital ino (anenge 50% wevarwere);

- cysts pamusoro itsvo, hydronephrosis;

- zvokurwara mu uropi (dysplasia convolutions, aplasia pakati ari corpus callosum nevamwe);

- kukwirira kana mumukaha mukanwa;

- cryptorchidism.

Zvakare, kwete hazvo kuti mwana anorwara vakapinda zvose pamusoro zvikanganiso zvomukati.

Anomalies of zvetsandanyama nemapfupa hurongwa

Neonates zvinogona muzvidimbu kuremara, musana, thorax, rinova chirwere Cornelia of Lange Syndrome (mapikicha vanhu vane hosha dzinoturwa munyaya).

Vamwe zvikanganiso zviri kuoneka pakarepo. Ivo:

- kusavapo mumwe kana kupfuura nemimwe;

- fused minwe (kazhinji kuwanikwa ari makumbo);

- akaremara musana uye / kana pachipfuva.

With mwana kukura kuva zvikuru zvinokosha zvarakasiya zvinotevera:

- kukura retardation (dzimwe nguva, dwarfism);

- hypoplasia, muzvidimbu kupfupikisa;

- maoko diki uye netsoka;

- pamutsipa mupfupi;

- kushomeka mano kugokora Vanokotama, unbend (contracture).

Chetsinga abnormalities uye zvirwere pfungwa nhengo

Zvinosuruvarisa pane zvimwe zvakawanda vana vari chirwere "Cornelia of Lange syndrome." Zviratidzo chokuita chetsinga ezvinhu mwana, angava:

- vachangoberekwa muchayamwa listlessly, kazhinji kukurutsai;

- pasi mufambo uye kurovedza muviri;

- tsandanyama hypotonia (tsandanyama matauriro iri akatura, hakuna simba mumaoko nemakumbo);

- periodic panowanikwa pfari.

Vana vane chirwere of Lange nezvinetso nokunzwa, kuona uye matauriro. Vazhinji vavo vanotaura shoma kana kwete munoti chero zera. Vabereki cherechedza kuti vamwe vana vataure zvido zvavo nemasaini. Vision vari matambudziko akadai:

- strabismus;

- myopia;

- astigmatism;

- atrophy of optic etsinga.

rezvedzidzo budiriro

Cornelia of Lange chirwere kuwedzera mamwe matambudziko utano anokonzera retardation hwepfungwa, icho vachipemberera mwana anenge ose vanorwara, uye muna 80% kuti zviitiko chirwere imbecility kana debility. Zvisinei, pane vana vane of Lange Syndrome vanopinda nguva dzose preschools uye zvikoro. It zvinoenderana Ndeupi kaviri chirwere chirwere. Chokutanga anonzi Classic, umo mune zvakasiyana-siyana ari nokuumbwa uye kushanda zvomukati, zvimwewo abnormalities uye akazivisa retardation mupfungwa. The chimiro chechipiri conventionally inonzi lubricated. Kana vakachengeta zvimwe zvokunze abnormalities, pane zvimwe zvinetso nhengo dzomukati, asi njere kukura ane muganhu kunonoka.

Sezvo vabereki vanotaura nevana pamwe chirwere of Lange chero zera, regai kukumbira chimbuzi, kazhinji asingatani kutsamwa ndinoda kuita zvakasiyana-siyana kujairika utano vana matanho: dzose kubvarura pepa, vayo, nokuparadza zvose inowira kuti mumaoko avo, nguva dzose kuenda mudenderedzwa . Zviito zvakadaro vana saivo akadzikama.

Zvinokonzera chirwere

Zvakatora anenge makore zana kubva panguva apo pakutanga rakarondedzerwa Cornelia of Lange syndrome. Zvinokonzera chirwere panguva iyoyo takazoziva. Ava kunotouraya ari majini. Nhamba huru nyaya yakanyorwa kunotouraya ari chromosome 5, kutaura zvazviri muna NIPBL Gene, riri mu papfudzi rake, "p." A chikamu chiduku zviri chirwere of Lange yakanyorwa vanhu vane mutation okutodza 1a mapuroteni (anonzi SMC1A Gene), uye imwe nyaya segwapa aine mutation mu chromosome mapuroteni anonzi Gene SMC3. Zvisinei, zvinokonzera izvi Gene kunotouraya vari padariro nedzidziso uye hypotheses achiri.

Zvinonzi vakatenda kuti kungaita noutachiona pamuviri, kunyanya panguva trimester rokutanga, vamwe zvinodhaka, kukwegura baba wemwana kana rwaamai zera kwemakore 35, uyewo mhuri pakati pehama.

Asi hapana zvikonzero izvi hazvisi vamwe, uye 100% kunokonzera nemagene kuchinja.

Chimwe pfungwa rinoitwa kuti Cornelia of Lange chirwere iri nhaka, asi kupfuura hafu varwere vakadzidza chirwere ichi akazviratidza pano neapo, kokutanga munhangemutange.

Cornelia of Lange Syndrome Forecast

Zvinofungidzirwa kuti chirwere ichi hariwanikwi chaizvo. Dzakafanana data, kakawanda zvaitika, kwete. Vamwe mabhuku vanoti mwana vachirwara 10 000 kuzvarwa mhenyu, vamwe kuti imwe 100 000, uye vamwe vanonzi nhamba siyana mune zvakawanda ichi. Kana uchifunga nezvazvo, hazvina kudaro zvishoma. Maererano nenhamba ose zuva panyika anozvarwa vanenge zviuru 370 vacheche. Ndizvo, kana ukawana kunyange yepasisa nenhamba, ose zuva anozvarwa vanenge 4 vanhu vari panoonekwa Cornelia of Lange Syndrome.

Vangani zvakadaro vanhu vararame, izvozvo zvinoenderana zvinhu zvizhinji, iyo ndiyo dhigirii yomunyika nhengo abnormalities, avo nenguva kuonekwa uye chatingatevedzera rakashandurwa zvokurapa migumisiro. Kana mwana wako aine zvokurwara ine nhengo dzomukati haawirirani upenyu, iye achafa mumwedzi wokutanga aberekwa. Kana abnormalities of zvomukati zvidukuduku kana mwana panguva yakaitwa kuvhiyiwa, nguva upenyu hunogona rebei. Chinowedzera achifanotaura chokuti muviri varwere of Lange chirwere haisi kukwanisa kupa simba kudzivisa chirwere kwakajairika, semuenzaniso nemavhairasi, uye zvakasimba kurwa navo.

mabatiro

Vanyori Most uye manyuko vanoti hapana nzira kurapa mwana anenge chirwere Cornelia of Lange syndrome. Treatment ipfupi kuti maoparesheni (kana zvichiratidza), vachitora mavhitaminzi, nootropics (zvazvinoita pfungwa basa), anabolic steroids, vakabata nyaradzo. Zvisinei, munguva yedu hurusa zvigadzirwa zvemazuva ano zvinogona kana kwete zvachose kukurira chirwere, kuti kuderedza kuratidzwa kwayo. Zvinoda kutenda kubudirira, rinopfuura revanhu murefu uye mari, nekuti kurapwa inodhura. Heano contactsGoogle kumakiriniki uye nzvimbo kuti anotorwa kubatsira:

1. Kiev. Scientific uye Methodological Center "Chokwadi", riri napadare Williams, kuvaka nhamba 4. Phone: + 38-044-467-63-89 + 38-095-068-30-74. Pano vari kushanda nzira Ulyany Luschik, pane yakawanda nyaya dzinovaka.

2. Moscow, Solntsevo. Scientific uye Rinoshanda Center iri padare Vatyairi, kuvaka nhamba 38. Phone: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. Pane ongororo dzakawanda kuti vana vane chirwere of Lange pashure arapwe pakati ichi kunova nani zvikuru.

3. Israeri. Center biocorrection navo. Vasilyeva (kurapwa mari kubva 10 chiuru. E.). Phone: 972-352-333-89.

In vana chirwere kuti "Cornelia of Lange Syndrome" upenyu anotarisirwa kunonyanya novimba udyire kutarisirwa wadzo vanhu, nokuti kuita pamwe nevarwere vakadaro vanoda anenge ose miniti. Kakawanda kubudirira yakanaka migumisiro yokurapa vari wakaderedzwa kana airarama zero, kana ukasiya kurapwa, kana nokungoti pane zvekare.

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dziviriro

Zvakaoma kutaura pamusoro matanho ari chirwere, zvinokonzera zviri zvisingazivikanwi. Akapiwa isingachinji zvinhu kungaita kunotouraya ari nemagene vanochiva zvingava here:

- kudzivirira vanamba vana nehama ropa;

- kuva vasingafariri mukupera amai uye baba;

- panguva pamuviri, kunyanya panguva yokutanga mwedzi, kuti kutora matanho ose kudzivisa kutapukirwa noutachiona, uye chiitiko urwere kutora mushonga chete mushure mekubvunza chiremba wako.

Pahwaro yezvidzidzo wevarwere pamwe chirwere pakati Cornelia of Lange vanachiremba chiwanzo chokudavira kuti vari mumhuri imwe inogona kuzodzosera akaberekerwa mwana anorwara muna 2% nyaya, uye avo mhuri apo baba kana mai, pane zvimwe zviratidzo zviri chirwere of Lange, mwana anorwara anogona kuzvarwa muna 25% nyaya. Saka, vakadzi vose vari pangozi vanofanira kugamuchira zvakadzama pamuviri nechirwere, zvikurukuru tarisa kuti serum PAPP mapuroteni. Kana kwete, pane yakakwirira chaizvo mukana yokuva mwana pamwe Cornelia of Lange syndrome.