Larsen Syndrome: Take, tohu, Treatment

Ko na matatini to tatou waehere ira e taea tata tetahi kino meinga he tauhohenga mekameka me pā kore ko te tangata i tona pai. Kei te te kimi Scientists tonu mate hou, engari, i roto i to ratou ake kupu, tonu te genome unexplored iwa tekau ōrau.

whakaahuatanga

Larsen syndrome (ICD-10 - M89 waehere) - ko te mate onge ira e kua he whānui o faaiteraa tohuāhua ngā. E whakaaro ana te āhuatanga tino āhuatanga ki te hei dislocations me subluxations o hononga nui, te aroaro o malformations o nga wheua kanohi o te angaanga , me te e alangá mahi raruraru. Ko te mau faaiteraa Tuarua ngā scoliosis, clubfoot, poto roa, me mau fifi manawa.

meinga Larsen syndrome e irakētanga ira e taea puta noa, me te kia riro i roto i te ahua tino autosomal. Ki te huringa i roto i te ira FLNB here te rōpū katoa o mate e whakaatu raruraru i roto i te pūnaha kōhiwi. kia rerekē tohu motuhake, ara i roto i whanaunga.

take

He aha Me tupu i roto i te tinana puta i ahu Larsen syndrome? Ko te take o tenei mate e piri tonu i roto i te mea ka kakarauri o pūtaiao. Kei te anake mohiotia reira e ko te reira āhuatanga o te kainga tino autosomal. Ko e kia nui ki te haere i te māuiuitanga ki ratou tamariki, a pea noa mokopuna kotahi anake kape o te ira ke. kia ahu te ira i ngā mātua (i rua ranei i tetahi) kia te hua o ranei irakētanga māhorahora. Ko te mōrea o te tuku i te mate - 50/50, ahakoa o te sex o te tamaiti, me te maha o feitama.

Kei te ira whakarerekētia te i runga i te ringa poto o te toru o nga pūira. Ki te hiahiatia, ka taea e ngā kairangahau akatainuia i te wahi i reira i raro i te mōhiohio iranga te ki te huri i. Tikanga, encodes tenei ira te pūmua mohiotia i roto i ngā porowhita pūtaiao rite filamin B. whai reira he wāhi nui i roto i te whanaketanga o te cytoskeleton. Irakētanga arahi ki te meka e mutu te pūmua ki te mahi i tona mahi, a i tenei, he pāngia nga pūtau o te tinana.

People ki tenei mosaicism syndrome he taea. E ko, te pakeke, me te maha o ngā tohu o te mate e tika ti'aturi i runga i te maha o ngā pūtau i patua. e kore ai ētahi iwi ara whakapae e whai ratou he koha i roto i tenei ira.

mātai tahumaero

whakawhanake Larsen syndrome i te auau taua i roto i rua tangata me nga wahine. E ai ki ngā whakatau tata āwhiwhiwhi, puta te mate i roto i tetahi i roto i o te hou rau mano. Ko reira, Waimarie, rawa onge. E whakaaro tata tinihanga no te mea i reira he etahi uaua i roto i te tāutu i tēnei syndrome.

Hoki te wā tuatahi i te mate i roto i te tuhinga hauora kua whakaahuatia, kua i roto i te rau tau rua tekau waenganui-. Lauren Larsen me hoa kitea, ka tuhia e ono take o te syndrome i roto i ngā tamariki.

tohu

Larsen syndrome, rite whakahuatia i runga ake, e taea te whakakitea i roto i ara maha, ara i waenganui i whanaunga tata. E whakaaro ana te tohu tino āhuatanga o te mate ki te huri i te wheua kanohi. Ko ētahi o ēnei: he piriti whānui iti o te ihu, me te rae whanui, mata papatahi, te aroaro o te ngutu o runga ngatata mangai ranei. I tua atu, he tamariki dislocations o hononga nui (huha, turi, tuke) me subluxation pokohiwi.

Maihao o iwi poto, te whanui, me hononga ngoikore riro wewete. Ko te ringa kia atu wheua e hanumi ki tau, me te whati i te koiora o te kaupapa. No te tahi mau iwi, i reira te mea he taua āhuatanga onge rite tracheomalacia (tamarûraa o te wheua ngohe o te pukorokoro ranei).

tātaringa

Tātaritanga "Larsen syndrome" hanga te muri anake i te whakamātautau ki tonu o te manawanui, whakamātautau tupato o tona hītori hauora me te aroaro o nga tohu X-ray āhuatanga. I tua atu, ka taea e te whakamātautau radiographic tonu whakakitea abnormalities me te whanaketanga kōhiwi hāngai, e he autaki e pā ana ki te mate.

Ultrasound tātaritanga i roto i te utero kia whakakitea Larsen syndrome. Photos o wheua hanganga ki te mātanga ultrasound pai-whakangungua taea e te tïmatanga ki te rapu mō abnormalities ira o te kukune. Mai i mawhiti tuatahi e kore e taea e koe te korero ki te mea ahua o te mate, kua arahina ki te māuiuitanga o te angaanga kanohi me wheua o nga topito, tūtohutia te whaea expectant te ki te mahi i te amniocentesis me whakahaere whakamātautau ira ki te rapu mō irakētanga i roto i te toru o nga pūira.

Ki te te whakapumautia te mate, engari faaoti te tokorua ki te mau tonu te hapūtanga, tūtohutia te whaea expectant te ki te mahi tikanga wāhanga whakawhānau, kia rite kore ki te tūkino i wheua o te tamaiti i roto i tona wahi i roto i te wahine papatoiake ki te tuku tara.

maimoatanga

e kore e mehua Therapeutic hāngai i te whakakorenga o te mate, me ki te whakaiti i nga tohu haumanu. Tenei whai wāhi pediatricians, orthopedists, tohunga i roto i te pokanga maxillofacial me iranga. I muri i te aro mātai o te kāwanatanga tuatahi o te tamaiti, me te aromatawai i te tūponotanga katoa, ka taea e ratou timata ki te whakatika i maumaui tīariari.

Ko te kōwhiringa tino urutomo, tukinotia nei ko Larsen syndrome - mirimiri. He mea tika ki te whakapakari i te uaua, me tuhonohono e mau nga hononga, me ki te whakapai ake i te tiaki o te hoki me te whakatika i te tuaiwi. Otiia i mua i puta ki tikanga haumanu rapu he maha o ngā mahi. E hiahiatia ana ratou mo te whakatikatika deformation kerekere ranei deformities kōhiwi, stabilization vertebral. A, no te rapu tracheomalacia intubation me ka te whakatakoto i te ngongo manawa (tonu), e ka mau tonu te patency o te airway runga.

Maimoatanga o tenei mate - he tukanga roa e taea te tango tau. Ki te matuatanga o te tamaiti faarahi te kawenga i runga i te whenua, a ka hiahia ano kia reira whakanohonoho tinana, i tua, a pea noa pokanga.