Cornelia de Ka Lange maʻi pale: Hawaii photo, kumu, symptoms,ʻike, prognosis, ola expectancy, lapaʻau

He nui na kula kālaimeaola haʻawina hoomanao i ua ho'īli aaiaoe ike mai ka makua kāne i ka makuwahine o kā lākou mau keiki, i loko o ke kanaka genome ninoieo o ka 23 hui o chromosomes. Ua loaʻa ma kahi o 28.000 nā'ōewe, kela mea keia mea o a heʻano nui kūlana i loko o ke kahua o ke kanaka kino Radio. Mutational loli wale i kekahi o ia ke hoʻonāukiuki Cornelia de Ka Lange maʻi pale, he loa kaʻawaʻawa, a me ka hapanui hihia, a hala loa i kekahi maʻi nui, pinepine alakaʻi ana i ka make. He nui nā kākau hoʻopaʻapaʻa ana i ka poe e loaa ana mai keia maʻi pale i hiki ole. Akā, hana ole o ka manao, no ka mea, ke kālā no 'epekema a me ka lapaau, e ho okumu ana i maoli no na hana mana.

Ke etymology o ka inoa

Ua kapaia ka inoa o Cornelia de Ka Lange maʻi pale ma hope ona, e wehewehe i au mamuli o ka pediatrician i kapaia o Cornelia de Ka Lange, ma na 30s o ka iwakalua kenekulia e noho ana, a hana i loko o ka Netherlands. 'Aʻole' o ia ma kona hana 5 na hihia malama, i ka hope manawa pono mau kaikamahine a pau,ʻaʻole hoahanau. I ka makahiki 1933, o Korenelio i ka piha hōʻike, a me ka hopena o kona mau loina. Akā, nui mamua (ma 1916) ka mea, o ka mea hookahi mai diagnosed a ua hoakakaia ma ka au mamuli o ka German kauka W. Brahman, no laila, ka mea pinepine hana i ka inoa o Brahman maʻi pale - Lange. Eia hou, i ka pono inoa o ka maʻi pale o Part I, e like me ke kulanakauhale pono ekolu keiki, ka mea i loaʻa i kēia pathology i kākau. A pau ekolu inoa - e kekahi, a me ka ia maʻi. Ua Ua loaʻa ma luna o nā'āinapuniʻole, kanaka o nā mea a pau e heihei ana, a me ka lāhui i nā pūʻulu, me ka like alapine (frequency) i loko o nā keiki kāne a me nā kaikamāhine a pau. No ka aneane he haneri makahiki mahope mai o ka hōʻike mua, ua aʻo i loko o au mamuli 400 hihia o keia maʻi.

Anomalies ili poo a me ka ili

Cornelia de Ka Lange maʻi pale i ke mahuʻi mua, mai ka minuke mua o ke ola bebe. N symptoms:

1. Low hanau ke kaupaonaʻana (o ka hola 2/3 o ka maʻamau).

2. Anomalies o ka puniu wale no:

- microcephaly (iwi poʻo o ka hola 10% emi ma mua o maʻamau (98% o nā mea maʻi);

- brachycephaly (mea ulu i loko o ka transverse Ana (laula) o ka puniu wale no e pili ana i kona lonikū Ana);

- ka ho'ēmiʻana o ka lolo o ke poo.

More ma mua o ka hapalua o na kamalii uuku malama māhuahua pilosity hoʻi, a me kekahi manawa i ke kino holoʻokoʻa. Ka ili o na kamalii uuku o ka hola 2/3 cyanotic kumu me ka maikai viewable moku (marbling o ka ili), akā, i kēia symptom mea i noho pilikia i loko o kaʻike, o keia maʻi.

lehalehu t anomalies

Mā ma luna o ka maka o ke keiki i ka loa kaiāulu hoihoi o nā ana hoʻohālike e diagnose Cornelia de Ka Lange maʻi pale. Photo bebe ma luna pono hōʻike i kēia. A haiahū kūmau mai maliu kūmau i:

- pono hoakakaia like i unuhiʻia hulu kuʻemaka, converging ma luna o ke alahaka (99% o nā hihia);

- maikai, lōʻihi kaula, pinepine recurved (99%);

- uuku ihu, a ihu nei iluna aku (88%);

- ākea, a ke alanui nasal alahaka (88%);

- he waha me aʻela kihi (94%);

- unconventionally nui mamao ma waena o ka ihu a me ka lehelehe;

- haʻahaʻa-i mau pepeiao;

- hypoplasia (hypoplasia) o ka lalo iwi ā (84%);

- haÿahaÿa ua aia ma ka lae, a / ai nape o ka palena o ka lauoho (94%).

Ka luna deviations ma luna o ke keiki i ka maka e hele nā mea a pau a e wale he mau.

Anomalies o ka mea na nā loko

Hypoplasia (underdevelopment), a me ka pathological haunaele ma ke kahua o ka mea na nā loko nō o ka pilikia nui i na ola o na keiki i i ua hōʻike 'Cornelia de Ka Lange maʻi pale. ʻike, nā MRI, X-Ray, ultrasound, rhinoscopy, cytogenetic Ka Ikepili a me nā laekahi 'ana i kūpono.

Ma keia maʻi hiki e malama.

- choanal atresia, a oi wale, iaʻi o ka nasal lua (ua loa i pili i ka de Ka Lange maʻi pale keia pathology a me ka maʻalahi diagnosed e ana i ke kamaiki o ha paha ma ke kumu o kaʻimi);

- mā i loko o ka 'ole o ka naʻau (vascular malformations, kiwikā, baffles);

- gastrointestinal maʻi (cecum hoʻoneʻe, kekahi i kekahi poe);

- mā o ka urogenital'ōnaehana (ka hola 50% o nā mea maʻi);

- cysts ma nā puʻupaʻa, hydronephrosis;

- pathology ma ka lolo'aʻaʻa (dysplasia convolutions, aplasia o ke kino callosum a me na mea e ae);

-ʻoi aku ko lākou kiʻekiʻe a mauae kīleo;

- cryptorchidism.

Hou,ʻaʻole pono e loaʻa i ka maʻi keiki hele a pau o ka luna mā o ka na nā loko.

Anomalies o ka musculoskeletal'ōnaehana

Neonates hiki e lala mā, spine, thorax, i ua i diagnosed me Cornelia de Ka Lange maʻi pale (kiʻi o nā poʻe me ka maʻi e hōʻike i ka 'atikala).

Kekahi mā e hiki koke. Ka mea, e:

- i ka wa e kaawale aku o kekahi a oi manamanalima;

- fused manamana lima (ana i loaʻa ma luna o nā wāwae);

- ino spine a / a me ka umauma.

Me ke kamaiki ulu i lilo muli o kona kulana nui penei deviations:

- ulu retardation (i loko o kekahi mau hihia, dwarfism);

- hypoplasia, lālā hua'ōleloʻo;

- lima ka poe liilii, a me ka wawae;

- pōkole loa ai;

- kali i ka hiki ana o kuʻekuʻe aku hoʻohei, unbend (contracture).

Neurological abnormalities a me nā maʻi o ke ano nā loko

Eia naʻe, he nui nā pilikia ma na keiki ka poe i diagnosed me "Cornelia de Ka Lange maʻi pale." Symptoms pili me ka neurological ano o ke keiki, e ia:

- nā pēpē i ka waiu listlessly, pinepine luaʻi aku;

- haahaa ka hoʻoneʻe, a physical aayoaeuiinoe;

- Muscle hypotonia (Muscle leo ua kuu iho, aole hoi he mana i loko o nā lima a me na wawae);

- ka papa'āweʻaweʻa kemika hanana o ke kāʻili 'ana.

Children me ka maʻi pale de Ka Lange i pilikia me ka lohe, maka a me ka'ōleloʻana. He nui o ka lakou olelo ana uuku paha i olelo i loko o kekahi mau makahiki. Na makua e hoailona oukou i ka hapanui o na keiki ka hoike i ko lakou makemake lima kolohe 'ana. Hihio ka mea, e mau pilikia.

- strabismus;

- myopia;

- astigmatism;

- atrophy o ka optic nā aʻalolo.

imi naʻauao ulu

Cornelia de Ka Lange maʻi pale ma waho aʻeo nā mea a pau e ola complications ma o na la noʻonoʻo retardation, i ua hookahakaha i aneane na maʻi keiki, a me ka 80% o ka hihia i diagnosed imbecility paha debility. Eia naʻe, he mau keiki me ka de Ka Lange maʻi pale e hele ana regular kamaliʻi a me nā kula. Ua hilinaʻi nui ma luna i o na ano mau o ka maʻi diagnosed. Ka mua ua kapaʻia ka Classic, ma i neia manawa, ua nui na mea likeʻole i loko o ke kahua a me ka hana ana o ka mea na nā loko, mawaho abnormalities a hai noʻonoʻo retardation. Ka lua o ka palapala ua conventionally kapaia lubricated. I ka wa ia kekahi mawaho abnormalities malama, aia nō kekahi mau pilikia a me na nā loko, akā, no ka 'imi naʻauao' ana o ka palena ke kali ole.

E like me na makua o na keiki me ka maʻi pale de Ka Lange i kekahi makahiki, mai noi no ka 'Ia, pinepine prone e ae hookaawale makemake e hana i kekahiʻano o ka hana ola keikiʻanuʻu: mau haehae i ka pepa, i ia, e luku aku na mea a pau e moe i loko o kā lākou mau lima, a pau i ka manawa e neʻe i loko o ka kaiapili . Oia hana mau keiki me ia a malie iho la.

Nā kumu o ka maʻi

Ua i aneane hoʻokahi haneri makahiki, mai ka manawa o ka mea i ho'ākāka 'ia ma mua e Cornelia de Ka Lange maʻi pale. Nā kumu o ka maʻi i loko o ia manawa, ua loaʻa mai. Mau mea mutations ma na nā'ōewe. Ka nui loa ka helu ana o na hihia i hoʻopaʻa i loko o mutations i loko o ka chromosome 5, nui kaʻoi loa ma NIPBL'ōewe, i kahi i loko o kona poohiwi, "p." A uuku pakeneka o ka maʻi pale de Ka Lange i kākau i loko o kanaka me ka mutation o chromosomes 1a kumuʻiʻo (kapa SMC1A'ōewe), a me kekahi hihia ua hoailono aku la me ka mutation ma chromosome nā polokina kapa'ōewe SMC3. Naʻe, i nā kumu o kēia mau'ōewe mutations mea nō i loko o ke kahua o theories a me hypotheses.

Ua Ua manaoio ia ka mea, hiki i nā mea palahēhē ma ka hāpai keiki, o ka oi aku i ka trimester mua, kekahi ai ', holomua makahiki makua kāne i ke keiki kāne, a me maternal makahiki no 35 makahiki, e like me ka mare ma waena o hoahanau.

Akā, i kekahi o kēia mau kumu mea i kekahi, a me ka 100% ke kumu aaiaoe loli.

Kekahi kuhiakau ua hana mai ia Cornelia de Ka Lange maʻi pale ua ili mai iā ia, akā, oi ma mua o ka hapalua o ka hoʻomanawanui iki mai aʻo i kēia maʻi ikea sporadically, no ka manawa mua i loko o ka heihei.

Cornelia de Ka Lange maʻi pale Forecast

Ua Ua manaoio aku i keia maʻi ka loa pohihihi keia. Pahele ikepili, ke alapine (frequency) i a ia i, aole. Kekahi kumu koi ana, e ae ia kekahi o ka 100 000, a me kekahi poe e ae i kapaʻia ka maʻi keiki o ka 10 000 ola hanau okoa loa i loko o kēia laulā. Inā 'oe manaʻo e pili ana ia, ia ke ole pela uuku. E like me ka 'ikepili helu kēlā lā ma luna o ka honua ua hanau ma kahi o 370 tausani keiki. Ia mea, ina e lawe i ka haahaa kii, i kela la i ua hānau ma kahi o 4 kanaka, ka poe i diagnosed Cornelia de Ka Lange maʻi pale.

Pehea ua nui wale na kanaka e ola nei, e hilinaʻi nui ma luna o na mea he nui aʻe, a i mea na degere o na hui abnormalities, kā lākou 'eleu ka loaʻaʻana a me ka pono o ka luhi' inikua loa. Inā kāu keiki i kekahi pathology o na nā loko incompatible i ke ola,ʻo ia ke make i loko o ka malama mua ma hope o ka hānau. Inā abnormalities o ka na nā loko i nīnūnē paha keiki i ka manawa i iʻoki kino, wā o ke ola hiki e he lōʻihi. Compounding i ka olelo wanana a ma ka mea ana i ke kino o nā mea maʻi me de Ka Lange maʻi pale mea,ʻaʻole hiki ke i ikaika e kū'ē'ē mai i ka maʻiʻike mau, e laʻa me mea hoʻomaʻi, a me ka paʻakikī i kaua ia.

lapaʻau

Loa kākau a me nā kumu koi i ka mea, aohe ala, e hoola i ke keiki i ua diagnosed Cornelia de Ka Lange maʻi pale. ua hoemi iʻoki lāʻau lapaʻau ke kaʻina hana iapaau ana (ina he mau nāʻikepili), lawe nā wikamina, nootropics (kanawai ma ka lolo hana), anabolic steroid, paʻa ana sedation. Eia naʻe, i loko o ka manawa o ka 'enehana kiekie hiki ia ināʻaʻole loa maluna o ka maʻi, i me ka nui loa ho'ēmi i kona hoike ana. Ua pono ma kahi kaʻawale, ma ka pomaikai, kupaianaha maoli ke ahonui a me ke kala, no ka mea, o ka iapaau ana mea pipiʻi. Eia nā hui 'ana o nā keʻena lāʻau lapaʻau a me-oaio? A ia i ia, e kōkua:

1. Kiev. ʻepekema, a Methodological Center "He oiaio", aia ma ka alanui o Williams, e hana ana ka helu 4. Phone: + 38-044-467-63-89 + 38-095-068-30-74. Eia e hana ana ma luna o ka papa hana Ulyany Luschik, aia nō he wahi lihi iki o ka maikaʻi manaʻo.

2. Moscow, Solntsevo. ʻepekema a me ka mea hiki Center aia ma ke alanui o ke pailota, kukulu ana i na helu 38. Phone: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. He nui nā hōʻike manaʻo i na keiki me ka maʻi pale de Ka Lange hope lapaʻau ma keia mawaena konu i ka maikaʻi.

3. Israel. Center biocorrection ia. Vasilyeva (lapaʻau koina mai ka 10 tausani ma. E.). Phone: 972-352-333-89.

Ma na keiki a me kaʻike, o "Cornelia de Ka Lange maʻi pale" ola expectancy Ua pili kēia e kaukaʻi ma ka selfless malama ana o ko lakou poe kanaka maoli kanaka, no ka mea, e kū'ē i ka hoʻomanawanui iki mai Pono aneane kela minuke. e hoemi loa pinepine kō maikaʻi hopena o ka iapaau ana a hoemi ia i ka 'Aʻohe, ina e hooki aku i lapaʻau, ai wale no ka mea, he relapse.

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Kāohi

He paʻakikī e kamailio e pili ana i ke kāohi ana o ka maʻi, nā kumu o ka i mea IKE OLE IA. Ua haawiia ka hookupaa kumumea i hiki i mutations ma ka aaiaoe iliwai, ka mea i e pono:

- e pale aku i ka hapai ana o ke keiki ma ka pili koko;

- e wary o ka hopena noho 'ana makuahine a me ka fatherhood;

- i hāpai keiki, o ka oi aku i na mahina mua, e lawe a pau ana e pale mea hoʻomaʻi nā mea palahēhē, a ma ka hopena o ka maʻi, e lawe ka lapaʻauʻia Consulting i kou kauka wale nō ma hope.

Ma ke kumu o nā haʻawina o nā mea maʻi i ka maʻi pale o Cornelia de Ka Lange kauka kamaʻilioʻana i ka manaʻo i loko o ka hookahi ohana hiki ke hou-hanau i ka maʻi keiki i loko o 2% o ka hihia, a ma ia mau ohana ma o ka makuakane a me ka makuwahine, loaʻa nō kekahi mau symptoms o ka maʻi pale de Ka Lange, he maʻi keiki hiki ke hanau i loko o 25% o ka hihia. Nolaila, nā wāhine a pau i kamepiula e loaa ma-hohonu, prenatalʻike, ma ka maikai, e nānā i ka lāʻau lapaʻau PAPP kumuʻiʻo. Inā ole, he mea he pahiki kiʻekiʻe loa o ka ke keiki me Cornelia de Ka Lange maʻi pale.