Ko Primordial dwarfism ko e taha ia ʻo e faʻahinga ʻe 200 ʻo e dwarfism ʻa ia ʻoku ʻi he māmaní. Ko ha mahaki tukufakaholo hahamolofia ia, Mahalo ʻoku siʻi hifo he kakai ʻe toko teau he funga ʻo e mamani ʻoku primordial dwarfism. Ko ha vakai fakalukufua nounou ʻeni ki he ngaahi tafaʻaki kehekehe ʻo e mahaki.
Ko Primordial dwarfism ko ha tuʻunga ia ʻoku fokotuʻu totonu mo proportionally ai ʻa e sino., ka ʻoku kei siʻisiʻi pē.
ʻOku kamata ʻa e faʻahinga dwarfism ko ʻeni ʻi he manava, pea ʻe lava ke ʻiloʻi lolotonga e feitama ʻi he taimi ʻoku fakatokangaʻi ai ʻoku siʻisiʻi ʻa e fetus. ʻOku faʻeleʻi ʻa e niʻihi fakafoʻituitui ko ʻeni underweight, nounou ange ʻi he tuʻunga angamahení, pea faʻa mate ʻi he 24 houa ʻe.
Fakafuofuaʻi ʻo e kakai ʻoku ʻi ai haʻane dwarfism ʻi he U.S. USA. oscillate ʻi he vahaʻa ʻo e 100.000 pea mo 500.000, Neongo ia, primordial dwarfism ko ha tuʻunga hahamolofia, ʻa ia ʻoku ʻiloa ke faingataʻaʻia siʻi hifo ʻi he 100 kakai ʻi he funga ʻo e māmaní.
Ífakahokohoko fakamotuʻalea
Faʻahinga primordial dwarfism
Tuhituhi ʻa Lāsolo-Silivá: ʻOku faingataʻaʻia ʻa e fanga kiʻi pepe ʻoku ʻi he tuʻunga ko ʻeni mei vakai tupulaki, neongo ʻoku faʻa māʻolunga ange hono māʻolungá ʻiate kinautolu ʻoku ʻi ai ʻenau ngaahi founga primordial dwarfism.. ʻOku nau fehangahangai foki mo ha asymmetry sino, hypoglycemia, siʻisiʻi ʻa e uʻá mo e siʻisiʻi ʻa e fakalakalaka ʻo e leʻ. ʻI ha ngaahi meʻa ʻe niʻihi ʻe lava ke lau ai ʻa Lasolo-siliva ko e faitoʻo.
Sehi taʻemau: Ko ha tuʻunga ia ʻoku toe ʻiloa ko e "ʻulu ʻo e manupuna" dwarfism.. ʻOku faʻa ʻi ai e ʻulu mo e fofonga ʻo e kau mahaki: fāsiʻi ʻaki ʻa e mata lalahí. ʻOku faingataʻaʻia ʻa e kakai ʻoku ʻi ai ʻenau tuʻunga ko ʻeni mei he faingataʻaʻia fakaʻatamai mo e ngaahi palopalema kehekehe ʻo e hui mo e ngaahi feituʻu mamaʻo..
Gorlin-Meier taʻemau: Ko ha mahaki ʻoku hāhāmolofia ʻene hāhāmol, toe ʻiloa foki ko e telinga patella syndrome (EPS), Naʻe fakatokangaʻi ʻa e kau mahaki ke ʻi ai ha fanga kiʻi telinga siʻisiʻi pea ʻikai ha tuʻulutui. ʻOku nau faingataʻaʻia foki mei he folau ʻa e ngaahi hokotanga hui mo e ngaahi moveuveu kehe ʻo e hui..
Osteodysplasia Majewski Primordial Dwarfism Type I (Taipeʻi ʻa e MOPD I): ʻE lava ke aʻusia ʻe he kau mahaki mei he mohe ʻa e leʻo pea ʻi ha ngaahi meʻa lalahi ʻa e hamu. Ko e ngaahi fakaʻilonga kehe ko ha ʻulu manifi, fakalakalaka kovi ʻo e fontanel, mo e tupulaki fakakātoa ʻo e skeletal.
Osteodysplasia Majewski Primordial Dwarfism Type II (MOPD II): Ko e founga faingataʻa taha ia ʻo primordial dwarfism, pea faingataʻaʻia ha kau mahaki ʻi ha ngaahi mahaki hange ko, retardation fakaʻatamai lahi, ongosia, ngaahi palopalema ʻo e maʻamaʻa mo e loto abnormalities. Te nau lava ʻo fakatupulaki ha ʻuto aneurysms ʻamui ange ʻi he moʻui, ʻokú ne fakanounouʻi hono ʻaonga ʻo e moʻuí.
ʻOku lau ʻa e ngaahi faʻahinga iiki ko ʻeni ʻe nima ko e kovi taha ia ʻi he 200 faʻahinga dwarfism ʻoku ʻiloʻi. ʻOku ʻikai faʻa moʻui ʻa e kakai ʻoku primordial dwarfism ʻo fakalaka atu ʻi hono taʻu tolungofulu, ka te nau lava ʻo moʻui fiefia fakataha mo e poupou ʻa honau ngaahi fāmilí mo fakamalohisino maʻu pē.
Ngaahi Tupuʻangá
ʻOku ʻikai ʻiloʻi ʻa e tupuʻanga totonu ʻo primordial dwarfism. ʻIkai koeʻuhi ko ha faʻahinga hono taʻe feʻunga, pe ko ha taʻe feʻunga ʻa e hōsí.
Neongo ia, ʻoku ʻi ai ha ngaahi fakaʻilonga mahino ʻoku tupu ʻa e faʻahinga dwarfism ko ʻeni mei he ngaahi moʻoniʻi meʻa tukufakaholo. ʻOku hoko ʻa Primordial dwarfism ʻi he taimi ʻoku maʻu ai ʻe ha embryo ha Sini ʻoku fekauʻaki mo ia mei he matuʻa takitaha..
Mahalo he ʻikai fakahaaʻi ʻe he mātuʻá e tuʻunga ko ʻen, ka te nau lava ʻo toʻotoʻo ha recessive Sini. ʻIo, lolotonga e tuʻituʻia, fakatahaʻi ʻa e afa ko ʻení, ʻe ala iku ia ki ha fetus ʻoku uesia ʻi he tuʻunga ko ʻení.
Ko e taha ʻo e ngaahi fakaʻilonga ko e foʻi moʻoni ko ia ko e hoko ko ha mahaki hahamolofia, ʻoku ʻi ai ha ngaahi fāmili ʻoku laka hake he toko tahá ʻa e fānau ʻoku ʻi aí.
ʻOku fakahaaʻi ʻe he dwarfism tokoua pehee autosomal recessive tofiʻa. Neongo ia, ʻuhinga ʻoku ʻuluaki maʻu ai ʻe ha kakai ʻe niʻihi ʻa e ngaahi afa ko ʻeni, ko ha meʻa ia ʻoku teʻeki ke ʻiloʻi.
Ngaahi Fakaʻilongá
ʻE lava ke fakatokangaʻi ʻa e ngaahi fakaʻilonga mei he siteisi fetal. Ko ha lisi ʻeni ʻo e ngaahi fakaʻilonga ʻi he feitama mo e ngaahi fakaʻilonga fekauʻaki mo e faʻeleʻi:
- ʻOku ʻikai tupulaki e kete ʻo e faʻe ʻoku feitama ʻo fakatatau ki he siakale ʻo ha feitama angamaheni.
- ʻOku fakatokangaʻi ha kiʻi fetus siʻisiʻi lolotonga fakaʻata mo ha ngaahi sivi feitama kehe, ka ʻoku angamaheni ʻaki pē ʻa e vave ʻo e tupulakí.
- Kamata kei taimi ʻa e ngaahi mamahi ʻo e ngaue pea ʻoku ʻi ai ha faʻeleʻi taʻehoko, ʻi he ngaahi feituʻu takatakai 35 ngaahi uike ʻo e fesiʻi.
- Hili hono fāʻeleʻí, fakatupulaki mo fakafaikehekeheʻi totonu ʻa e ngaahi ʻōkani kotoa pē ʻo e pēpē toki fāʻeleʻí, Neongo ia, ʻoku ʻikai ke fuʻu maʻulalo ange ʻa e mamafa mo e maʻolunga ʻo e pepe toki faʻeleʻi. ʻI he angamahení, ko ha maʻolunga ʻoku siʻi hifo he 16 ʻinisi mo e mamafa ʻoku siʻi hifo he 3 ʻOku fakafotunga ʻe he pauni ʻa e primordial dwarfism.
ʻI he tupulaki ʻa e tamasiʻí, ʻasi mai ha ngaahi fakaʻilonga lahi ange:
- Ngaahi palopalema ki he hui, tautautefito ki he ngaahi feituʻu ʻoku ʻikai ke ʻi ai ha taha ʻi he ngaahi hokotanga hui tuiʻinima, vakavaka mo tuʻulutui.
- ʻE lava ke hoko ʻa e Scoliosis ʻo e tuʻa tuʻa (mapelu tuʻa).
- ʻE lava pē ke ongo māʻolunga mo leʻo siʻi e leʻó.
- ʻOku faʻa ʻi ai ha tuʻunga ʻoku ʻiloa ko microcephaly., fakafōtunga ʻaki ha kiʻi meʻa siʻisiʻi ange ʻi he ʻavalisi ʻo e ʻulú.