Cornelia de Lange syndrome: photo, take, tohu, te tātaritanga, waitohunga, oranga, maimoatanga

mahara maha haapiiraa koiora kura e tuku mōhiohio iranga te i te papa ki te whaea o ratou tamariki, kei roto i te genome tangata ngā o 23 o pūira takirua. Kei reira e pā ana ki 28,000 ira, ia o nei whai wāhi tino hira i roto i te hanganga o te tinana tangata. huringa Mutational anake tetahi o ratou e taea e whakapataritari Cornelia de Lange syndrome, he he mate rawa kino, a i roto i te nuinga o te wā, me te rawa nui, maha ārahi ki te mate. He maha kaituhi tautohe e te hunga e mate ana i tenei syndrome i kahore tupono. Otiia mahi kore hepohepo, no te mea ki te pūtaiao hou, me te rongoā waihanga merekara tūturu.

Ko te Etymology o te ingoa

i te ingoa Cornelia de Lange syndrome i muri ki a ia te whakaahua i roto i te taipitopito te tākuta tamariki i huaina Cornelia de Lange, i roto i nga 30raa o te rau tau rua tekau e noho ana, ka mahi i roto i te Netherlands. Ko ia i roto i kite tona mahi 5 take pērā, te wa whakamutunga e rua noa ngā kōtiro kihai i nei whanaunga. I roto i te 1933, ka mau Koroniria te whakaahuatanga taipitopito me te mutunga o tana kitenga. Otiia nui mua (i roto i te 1916) ko reira te mate taua pāngia a whakaahuatia i roto i te taipitopito te rata Tiamana W. Brahman, na maha whakamahi ratou te ingoa o Brahman syndrome - Lange. I tua atu, ko te ingoa noa o te syndrome o Amsterdam, rite te pa tuhia tika e toru tamariki, nei i kitea tenei māuiuitanga. ingoa e toru katoa - e tetahi me te mate ano. Kei te kitea te reira i runga i fenua katoa, iwi o iwi katoa me ngā rōpū iwi, ki te auautanga rite i roto i rua tamaroa e tamahine he rite. Hoki tata he rau tau mai i te whakaahuatanga tuatahi, ako matou i roto i te taipitopito take 400 o tenei mate.

Kōhikohiko tumuaki me te kiri

kia whakapae Cornelia de Lange syndrome i te meneti tuatahi o te ora pēpi. tohu Paraimere:

1. taimaha whanau iti (āhua 2/3 o noa).

2. kōhikohiko o te angaanga:

- microcephaly (angaanga tata 10% iti iho i te noa (98% o tūroro);

- brachycephaly (hua i roto i te taha hake (whanui) o te whanaunga angaanga ki ona taha ahopou);

- whakaiti o te roro o te matenga.

Neke atu i te hawhe o nga kohungahunga i kitea e nui haere pilosity hoki, a ētahi wā te tinana katoa. Ko te kiri o te kohungahunga he āhua 2/3 tauira cyanotic ki oko viewable pai (marbling o te kiri), engari e kore e he tino i roto i te tātaritanga o tenei mate tenei tohu.

kōhikohiko kanohi

Hē i runga i te mata o te hou ko te paearu tino hihiri ki te tātari Cornelia de Lange Syndrome. tamaiti Photo i runga mārama whakaatu tenei. He ine i tikanga whakaaetia e:

- pai tāutuhia rite tukemata unu, ūngutu i runga i te piriti (99% o ngā take);

- ataahua, whiu te roa, maha kokeu (99%);

- ihu iti, e protrude ihu mua (88%);

- whanui a whakaukia piriti nasal (88%);

- he mangai ki te koki tuku iho (94%);

- tawhiti unconventionally nui i waenganui i te ihu me te ngutu;

- iti-i whakaritea taringa;

- hypoplasia (hypoplasia) o te kauae raro (84%);

- Kei iti rawa te i runga i te rae Porokaki me / ranei o te rohe o te makawe (94%).

kia haere i te ine i runga i runga i te mata o te hou katoa ranei kia te torutoru anake.

Kōhikohiko o nga whekau

Hypoplasia (underdevelopment), ki nga whakaoho pathological i roto i te hanganga o nga whekau ko te ati rahi ki te ora o ngā tamariki e kua tāutuhia Cornelia de Lange syndrome. Tātaritanga ngā MRI, X-ray, ultrasound, rhinoscopy, tātari cytogenetic me ētahi atu tikanga hou.

I roto i tenei mate e taea te kite:

- atresia choanal, ranei atu noa, arai o te kōhao nasal (tenei māuiuitanga te tino kore hono ki te syndrome de Lange me ngāwari pāngia e pehea te tamaiti ko te kupukupu i tikanga o te uiuia ranei);

- hē i roto i te hanganga o te ngakau (malformations iaia, vaolo, baffles);

- mate gastrointestinal (cecum turanga, etahi ētahi atu);

- hē o te pūnaha urogenital (āhua 50% o tūroro);

- cysts i runga i nga whatukuhu, hydronephrosis;

- māuiuitanga i roto i te kiko roro (convolutions dysplasia, aplasia o te io hono me ētahi atu);

- tiketike rawa ranei ngao ngatata;

- cryptorchidism.

Ano, e kore e tika ki te whai i tae he tamaiti mate katoa o nga hē i runga o nga whekau.

Kōhikohiko o te pūnaha musculoskeletal

Ka taea e Neonates hei melé alangá, tuarā, ãpoko, e te pāngia hoki ki Cornelia de Lange Syndrome (e te aroaro whakaahua o iwi ki te mate i roto i te tuhinga).

He kitea ētahi kohakore tonu. Ko ratou:

- te ngaro o tetahi atu ranei maihao;

- maihao tauta (te nuinga kitea i runga i nga waewae);

- tuarā hauā pouaka me / ranei.

Ki te tamaiti e tipu ake hoko ine e whai ake rawa nui:

- retardation tupu (i roto i ētahi wā, dwarfism);

- hypoplasia, e alangá shortening;

- ringa iti, me waewae;

- kaki poto rawa;

- whakawhāiti te kaha o te whatīanga piko, unbend (contracture).

abnormalities Neurological me mate o nga whekau tikanga

Kia aroha mai, i reira e maha atu raruraru i roto i ngā tamariki e pāngia ana ki "Cornelia de Lange syndrome." Tohu e pā ana ki te huru neurological o te tamaiti, kia kia:

- te u, haumani hou, maha ruakina;

- nekeneke iti me te mahi tinana;

- uaua hypotonia (oro uaua tuku iho te, i reira he kore mana i roto i nga ringa, me waewae);

- te takanga wā o hukihuki.

Tamariki ki te syndrome de Lange i raruraru ki rongo, titiro me te kupu. He tokomaha o ratou e korero iti ranei kahore mea i roto i tetahi tau. mōhio ngā mātua e te nuinga o nga tamariki faaite ratou tohu hiahia. Vision e pera raruraru ratou:

- strabismus;

- myopia;

- kite takarepa;

- atrophy o te karere whatu.

whanaketanga hinengaro

Cornelia de Lange syndrome i roto i te tua ki te katoa atu pōauautanga hauora meinga retardation hinengaro, whakanuia nei i roto i tata nga tamaiti mate, a i roto i te 80% o te wā e pāngia titotito debility ranei. Heoi, i reira he tamariki ki de Lange Syndrome e haere tōmua auau me ngā kura. Tei te reira i runga i nei o nga momo e rua o te mate pāngia. huaina ana te tuatahi ko te aronui, i roto i nei i reira e maha ngā rerekētanga i roto i te hanganga me te mahi o nga whekau, abnormalities waho, me te korerotia retardation hinengaro. Kei te conventionally huaina te puka tuarua lubricated. A, no te kite reira etahi abnormalities waho, i reira e te tahi mau raruraru ki whekau, ko te whanaketanga hinengaro o te roa rohe.

Ka rite ki pūrongo ngā mātua tamariki ki te syndrome de Lange i tetahi tau, e kore e ui mo te wharepaku, maha e pängia ana ki te ritenga rite ki te mahi i te whānuitanga o rerekē tamariki takahanga hauora: haehae tonu te pepa, kua ia, whakangaro mea katoa e taka ki o ratou ringa, ko te wa katoa ki te neke i roto i te porowhita . He tamariki rite ratou marino peheé mahi.

Ko te take o te mate

ka mau te reira i tata te rau tau i te wa, i te whakaahuatia reira te tuatahi e Cornelia de Lange syndrome. Ko te take o te mate i roto i taua wa i kitea e matou i roto i. He irakētanga i roto i te ira enei. Ko te tokomaha rawa o ngā take tuhia i roto i ngā irakētanga i roto i te pūira 5, atu ïa i roto i NIPBL ira, kei nei i roto i tona pokohiwi, "p." tohua te ōrau iti o te syndrome tuhia de Lange i roto i te iwi ki te irakētanga o pūira 1A pūmua (ira SMC1A huaina), a kotahi take e ki te irakētanga i roto i te pūmua pūira i huaina ira SMC3. Heoi, he tonu nga take o enei irakētanga ira i roto i te wā o ariā me whakapae.

Kei te whakapono te reira e taea meinga ratou mate i roto i te hapū, tautautefito ki he lolotonga te huatū tuatahi, etahi taero, tau arā atu papa o te tamaiti tau whaea ranei i runga i 35 tau, me te mau faaipoiporaa i waenganui i whanaunga.

Otiia e kore e tetahi o enei take he etahi, a 100% ai huringa ira.

Kei te mahi tētahi atu whakapae i roto i taua riro Cornelia de Lange syndrome te, engari neke atu i te hawhe o nga tūroro ako puta rä tenei mate, mo te wa tuatahi i roto i te iwi.

Cornelia de Lange Syndrome Matapae

Kei te whakapono te reira e ko te tino onge tenei mate. raraunga kākahu, te auau ki nei puta reira, kahore. titau ētahi puna e te tamaiti mate o 10 000 fanauraa ora, etahi e tetahi ia 100 000, me ētahi atu e huaina tau rerekē i roto i tēnei awhe. Ki te whakaaro koe e pā ana ki reira, e kore te reira na iti. E ai ki ngā tatauranga i nga ra i runga i te whenua i whanau tera e pā ana ki 370 mano ngā pēpi. Ko, ki te tango koe i ara nga whika i raro, i whanau nga ra e pā ana ki 4 te iwi nei e pāngia Cornelia de Lange Syndrome.

Hia iwi pērā ora, tei reira ki runga ki ngā āhuatanga maha, o nei ko te tohu o abnormalities okana ā-, ratou rapunga wā, me te kounga o te pānga i hurihia hauora. Ki te mea he māuiuitanga o whekau hotokore ki te ora tou tamaiti, kei te mate ia i roto i te marama tuatahi i muri i whanau. Ki te he iti tamaiti ranei i te wa i hanga pokanga abnormalities o nga whekau, taea e tino roa te wā o te ora. Pūhui te matapae i te meka e kore e taea e ki te whakarato kaha ātete ki te mate tikanga, hei tauira viral te tinana o te tūroro ki te de Lange syndrome, a uaua whawhai ratou.

maimoatanga

Te nuinga o ngā kaituhi me ngā puna titau e te mea kahore he ara ki te whakaora i te tamaiti nei pāngia te Cornelia de Lange syndrome. heke Treatment te ki ngā tukanga hāparapara (ki te reira he tohu), tango huaora, nootropics (pānga i runga i mahi roro), steroids anabolic, pupuri whakarokiroki. Heoi, i roto i to tatou wa o te hangarau te mea nui rawa e taea e ki te kore tino hinga te ma'i, e tino whakaiti i tona faaiteraa. E titau te reira whakapono i roto i te angitu, te manawanui mahulu me te moni, no te mea he utu te maimoatanga. Tenei he hoapā o haumanu me pokapū e kua riro ki te āwhina:

1. Kiev. Scientific ko huarahi Center "te pono", kei roto i te huarahi o Wiremu, hanga tau 4. waea: + 38-044-467-63-89 + 38-095-068-30-74. Tenei kei te mahi i runga i te tikanga Ulyany Luschik, i reira e he rota o te urupare pai.

2. Moscow, Solntsevo. Pokapū Scientific me Practical kei i runga i te huarahi o Pilots, hanga tau 38. waea: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. He maha arotake e nga tamariki ki te syndrome de Lange i muri i maimoatanga i tenei pokapū riro pai nui.

3. Iharaira. biocorrection ratou Center. (Utu maimoatanga i te 10 mano i roto i. E.) Vasilyeva. Waea: 972-352-333-89.

I roto i te tamariki ki te tātaritanga o "Cornelia de Lange Syndrome" tümanako ora ko te nuinga ti'aturi i runga i te tiaki ta'esiokita o ratou iwi Māori, no te mea ki te whai wāhi ki te hiahia taua tūroro tata katoa meneti. E iti Tino maha tutuki hua pai o te maimoatanga ranei heke ki te kore, ki te mutu koe maimoatanga, ranei noa no te mea i reira te mea he matahoki.

Urupare i ngā mātua, whakarato hua pai i roto i te maimoatanga o ratou tamariki kinesitherapy, hōtaka whakanohonoho motuhake o kauhoe ki aihe i te Dolphinarium, bioritmokorrektsiya, aromatherapy, akomanga waiata, therapy marama.

ārai

He uaua ki te kōrero e pā ana ki te āraihia o te mate, te take o nei he unknown. Homai nga āhuatanga whakapumautia e ai irakētanga i roto i te taumata ira, kia ai taua mea tika meinga:

- ki te ārai i te haputanga o ngā tamariki e whanaunga toto;

- kia tūpato o te mutunga o metua vahine e metua;

- i roto i te hapū, tautautefito ki he lolotonga te marama tuatahi, ki te tango i mehua katoa ki te karo i te mate viral, a i roto i te hui o te mate ki te tango i rongoā i muri noa kōrero i tō tākuta.

I runga i te pūtake o te rangahau o tūroro ki te syndrome o tākuta Cornelia de Lange ahu ki te whakapono e taea te i te tamaiti mate anō-whanau i roto i te 2% o ngā take i roto i te utuafare taua, a i roto i aua hapu te wahi te papa te whaea ranei, i reira e etahi tohu o te syndrome de Lange, e taea te whanau te tamaiti mate i roto i te 25% o te wā. Na reira, he wahine katoa i mōrearea kia riro i roto i-hohonu tātaritanga prenatal, i roto i ngā ki te tirohia hoki serum PAPP pūmua. Ki te kahore, i reira te mea he tūponotanga tiketike rawa o ia i te tamaiti ki a Cornelia de Lange syndrome.