Klippel - Feil syndrome: photo, maimoatanga, he aha te mau hopearaa ai kia? Sprengel syndrome - Rahu - Klippel: mahi i roto i te puna kaukau

E rua toketā neave French Andre Feil me Moris Klippel i 1912, whakaahuatia i roto i te taipitopito deformities congenital i roto i te tuaiwi waha-rei i roto i ngā tamariki. i whanau katoa o ratou i roto i nga matua o tetahi e pā ana toto. I roto i te Anotau, i taea e hoa faaipoipo ture hei whanaunga noa. Na reira, e kore te mea poitirere te nuinga o tenei Pākatokato. ingoa māuiuitanga i muri i muri i te pūtaiao. e kore te mea Feil syndrome he mate tino - Klippel. Ko te mate congenital, e maha arata'i ki ētahi atu pathologies tuaiwi.

Āhuatanga o te mate

I raro i syndrome Klippel - pā ana Feil ki disorders congenital o te tuaiwi waha, arā, i roto i te synostosis me te whakaiti i te maha o pekehoe. Kei te āhuatanga i te reira e te auau tiketike o te faaiteraa - kotahi take ia 120 000 whakatupuranga. whakaaro te āhuatanga tino angamaheni o te mate e ki te waiho i te whakaiti i tohua i roto i te roa o te kaki. I roto i te nuinga o te wā, haere tahi e te tahi atu abnormalities o te pūnaha musculoskeletal me abnormalities congenital o nga whekau. I roto i te tātaritanga o te mate tae te maha ngā tohunga :. Neurology, orthopedics, iranga, me ētahi atu maimoatanga tūpato ngā tinana therapy, i tua me te mirimiri. I roto i te wā tino kino rapua e pokanga - pokanga tservikalizatsii.

Ko te take matua o malformations

E pā ana Feil syndrome ki te mate whakaritea ira - Klippel. huringa pathological i roto i te tinana timata ki puta i roto i te wiki tuatahi i muri i haputanga. I roto i te mau taote take matua tuhia syndrome he mate whanaketanga o te tuarā me te whakawāhanga, rawa i roto i te taumata verhnesheykovom. I hanga rei synostosis me pekehoe waha, whakaiti ratou maha, tinana nonunion me haurangi tukua ki a tatou whakatau i te pikitia haumanu o te mate. Ko te rōpū mōrearea ngā tamariki ki te whakapapa kino, te wahi i reira he:

1. Ko te koha ira i roto i te pūira. I roto i te tamaiti e mate ana ko te takahi o te hanganga o te pārōnaki o tupu e tika ana mō te whanaketanga tonu o te tuahiwi. Kei te tuatapapa i kitea tenei i roto i te whanaketanga o ngā tari pekehoe rei, me te waha.
2. tauira tino Autosomal o tupu. Ki te te mate tetahi matua, te tūponotanga o ia i te pēpi ki te abnormalities he 50-100%.
3. kainga ngoikore Autosomal. I roto i tenei take, te tūponotanga o ia i te tamaiti ki te abnormalities o 0-50%.

Ki te karo kia kōrero i te mau metua tukufakaholo kino he geneticist i te wāhanga o te whakamahere o te tamaiti.

tohu Angamaheni o te syndrome

āhuatanga tēnei mate e te topu- matarohia o tohu: nui kaki poto, he huringa i roto i te hairline, iti nekeneke o te matenga. Kei te nuinga o te wā ngā te mate ki ētahi atu pathologies. I roto i whakakitea 30% o tūroro scoliosis, torticollis puka mārō, matatahi tu tiketike - mate Sprengel. I roto i ētahi wā i te abnormalities kitea o nga waewae o runga, waewae deformation, niho, karawhiti kanohi, hyperopia. I roto i te 25% o tūroro pāngia ki te turi congenital.

Klippel syndrome - Rahu - Sprengel - e kore e whakahuatia anake koha Paku. Kia hoki ngā te reira i tohu neurological. Huringa i roto i te CNS faaite mai hinengaro retardation, wairoro, haurangi. Mai te wawe tau te manawanui he ngoikore uaua i roto i te topito, me te synkinesis. I tau pakeke, tāpiri te pikitia haumanu whānui e huringa tuarua o te tuaiwi.

whakamātautau Medical

Ka taea te hāngai Whakamana o te mate i runga i topu- i kitea ai o tohu, raraunga whakamātautau tinana me whakamātautau mauhaa. He tūranga motuhake i roto i te tātaritanga hoatu ki te ako o te aamu utuafare o te manawanui. Kia anga Klippel - Feil syndrome ki te whakamārama taipitopito o tahi kōhikohiko pea rite ki te hua o te mahi ruruku o ngā tohunga. Ka rite ki te tikanga, i te reira neurologists, geneticists, orthopedists, cardiologists me pulmonologists.

Hei aromatawai i te āhua o te huringa i faataahia Radiography vertebral. whakahaere te ako i roto i rua ngä, o nei e te kōrero tino nuinga he lateral. No te mea o te tūranga uncharacteristic o te atarangi o te angaanga o te matenga hāngai ki te whakapakoko o te tīwae filosilivá, hanga reira uaua ki te tāutu i ngā tūemi. I tua atu, e tūtohu ana ki te tango i pikitia i mōrahi flexion / toronga o te kaki. Tenei taea ki te whakatau i te tapepe taea ununited pekehoe me manatoko syndrome Klippel - Feil. X-hihi o tuaiwi te waha-rei āwhina ki te tāutu i:

• pekehoe haka;
• iti i roto i to ratou maha;
• hononga o te tinana vertebral;
• matatahi tu rerekē;
• curvature o te tuaiwi.

I muri te whakau i te tātaritanga o te tūroro ato'a whakaritea ultrasound o whekau ki te kitea kōhikohiko i roto i to ratou hanganga. I roto i te aroaro o abnormalities neurological kia rapua e oko Doppler ultrasound, angiography, Tirohia te ko MRI o te tuaiwi waha. Ko reira mātua ki te kōrero i te rata-geneticist. E ai ki ona hua, ka taea ki te whakatau i te aratau o kainga, a ki te aromatawai i te tūponotanga ki whakatupuranga heke mai te tohunga.

Ko te puka taketake o te mate

Klippel syndrome - Feil ko te mate rawa onge. E ai ki ngā tatauranga, kua pāngia te tohu angamaheni i roto i tetahi tamaiti i roto i o 120 mano. puta te Pākatokato i roto i te manawanui i roto i tetahi o puka e toru:

• Whakaiti i te maha o wāhanga i roto i te tuarā waha, e āta e nunumi ana me ngā whakapoto i te kaki. Tenei puka o te māuiuitanga ai fifi ka neke upoko.
• Synostosis hononga tuarā waha i roto i te papamuri ki te wheua kōpako. E kore e taea e te manawanui tahuri tona matenga, kahore te mamae. pekehoe waha, me te kaki e kotahi.
• Ko te ahua tuatoru o te faaiteraa mate ngā te rua tuatahi.

Ka taea te whakaritea te kē ngā o te syndrome tākuta anake i runga i te kaupapa o te hua rangahau.

te mau parau tumu Basic o te maimoatanga

Kia aroha mai, e kore e taea e rongoā hou whakahere rawaka tikanga o pehea ki te whakakore rawa i te syndrome o Klippel - Feil. Treatment tā ārai i te whanaketanga o deformities tuarua. Tangohia rite te pūtake tikanga momo, e ngā therapy tinana me te mirimiri. homai maimoatanga Drug te i roto i te hui i haere tahi te tukanga mate e mamae me te hūhi kōpeketanga o pakiaka io. Ka rite ki te tikanga, whakamahia Pë, anti-inflammatory me taero kore-steroidal. kōpeketanga auroa o te pakiaka karere rapu pokanga. Ko te whakaaro matua o te mahi - ki te whakakore mamae hē tika wāhanga waho.

therapy tinana me mahi i roto i te poka

maimoatanga tūpato o te syndrome ngā akoranga therapy tinana, mirimiri whakaora o te tuarā waha, me te rohe kaki pera-ka karanga. E tīpakohia mahi takitahi, e hāngai ana i runga i te pikitia haumanu o te manawanui. Ko te wā tuatahi, kia kawea e ratou ki waho i raro i te mātakitaki o te mātanga, ka taea e ka koe neke i runga i ki ngaahi ngāue kāinga. Tūroro ki te tātaritanga o "Sprengel syndrome - Rahu - Klippel" mahi poka wai te āwhina ki te karo i te akoranga uaua o te mate. Ka rite ki te tikanga, tūroro taitamariki, tūtohu kaiwhakaako kau kiore. hoki tīpakohia takitahi mahi atu matatini. tūtohutanga Universal e pā taka porepore kauhoe kore e tīari.

maimoatanga hāparapara

mamae tamau meinga e kōpeketanga karere pakiaka ko te tohu tuatahi mō te pokanga. Tūroro ki te tātaritanga o "syndrome Klippel - Feil" waitohunga worsens ki tau. Na reira, whakaritea te mahi kei te tonu i muri i te haamauraa o te māuiuitanga. Hei whakanui i te whakamahia te nekeneke o te kaki mo tservikalizatsiya Bonola. I roto i te tukanga, te tango i te tākuta te wha rara runga, me te kiriuhi wheua i roto i te tikanga ki te whakaiti i te pēhanga ki runga ki nga whekau. whakamana te mahi i roto i te maha o ngā wāhanga. I te tīmatanga nekehia rara i tetahi taha, me te, i muri i te ora o te tinana - ki tetahi.

titau wā Rehabilitation te rota o te wā, me te kaha. Hoki te maha o nga marama, kia waiho te manawanui i okiokinga. Heoi, ki te hoatu ake mahi e kore te mea e tika ana. I tēnei wā ko reira te ara whai hua anake ki te whakatika i nga hē waho, te takanga o e pāngia e te syndrome Klippel - Feil. He aha e nga hopearaa mo te hauora, ki te whakarere tatou te maimoatanga, whakaahuatia i raro.

Pōauautanga me waitohunga mo te manawanui

I muri i te pokanga me te whakanohonoho wā ka taea e te manawanui arahi i te ora tonu. Ko te kaki ko te iti bit i roto i te wa tenei hua i roto i te roa, i te wāhi rerehua o te tirohanga, whakaaro nei, ko te āhuatanga pai. Ki te waihotia te manawanui tohutohu o te tākuta mo te whakaora, ka tīmata te tinana ki "te whakautu" pōauautanga. Matua whakawhanakehia māuiuitanga o whekau, i reira he mamae kaha i roto i te kaki. Past tika ki te hara tamau o te pakiaka karere, a taea arahi ki te whakaoti i obezdvizhevaniyu wahi. mōrea visceral o tukanga pathological tina heke, a kia waiho hei take o te mate wawe.

āraihia

He reira taea ki te ārai i te syndrome o Klippel - Feil? takoha Whakaahua o tūroro ki tenei tātaritanga ki te whakaaro e pā ana ki tenei pātai. e kore e ārai motuhake o tenei mate te tīariari, mai te mea te reira tuku. I roto i te mau utuafare i reira te wā i kua tuhia ōrite kōhikohiko, he mea e tika ana mo te tohutohu ira. Ko tōna ngako whewhe ki raro, ki te ruri i te tokorua faaineine mo te tūranga o te matua, ki te aromatawai i te tūponotanga o te mate.

Hei whakarāpopoto

Klippel - Feil syndrome ko te Pākatokato congenital o te tuaiwi o runga. Kei te āhuatanga i te reira e te topu- o tohu waho, me te maha o ngā āhuatanga radiological. Ko te mate he waitohunga faufaa pai, engari ki te whakaora i te reira tino e taea. Wā wawaotanga hāparapara ki te whakatika anake ka taea e wātea kohakore waho. Ki te i mua koe i whakapumautia e te whanaunga tata o te tātaritanga taua, he mea tika ki te mamae i te āta ira tonu i mua i hapu te tamaiti. E noho hauora!