Larsen Syndrome: Izimbangela, Izimpawu, Ukwelashwa

Ikhodi yethu izakhi zofuzo eziyinkimbinkimbi ukuze cishe kunoma iyiphi umonakalo kungabangela ukusabela chain futhi kuthinte muntu akekho at zizinhle. Ososayensi njalo ukuthola isifo esisha, kodwa, ngamazwi azo, ufuzo uhlala nhlobo ayisishiyagalolunye amaphesenti.

incazelo

Larsen syndrome (ICD-10 - i-M89 ikhodi) - kuyinto ezingavamile isifo esidluliselwa ngofuzo has a ezahlukene ukubonakaliswa phenotypic. Izici sici kakhulu kucatshangwa ukuthi dislocations futhi subluxations amalunga ezinkulu, khona kombungu amathambo ebusweni Yekhanda futhi kwemilenze noma izinkinga. I ukubonakaliswa yesibili zihlanganisa ukugobeka komhlandla, kokukhubazeka, onesiqu esifushane, ukuphefumula kanzima nobunzima.

Larsen syndrome ibangelwa iphuzu ukuguquka kwezakhi zofuzo ezingaba zenzeka ngokuzenzakalelayo futhi ngofuzo ku-autosomal imfashini evelele. Nge izinguquko isakhi sofuzo FLNB uzibophele lonke iqembu izifo abonisa abahluphayo nohlaka lwamathambo. izimpawu zingase zehluke, ngisho nasezihlotsheni.

izizathu

Yini okumelwe kwenzeke emzimbeni abasafufusa eladabuka Larsen syndrome? Izimbangela lesi sifo Namanje ecasha NGASEKUPHELENI isayensi. It is kuphela eyaziwa ukuthi kuyisici sobuntu autosomal ifa evelele. Lokho ikhophi eyodwa kuphela isakhi sofuzo washintsha kuyoba okwanele ukuba kudlule zokugula ukuze izingane zabo, futhi mhlawumbe ngisho nabazukulu. Isakhi kungenzeka ethathwe abazali (kusukela kokubili noma komunye) noma kube umphumela ukuguquka kwezakhi zofuzo nokuguqulwa. Ingozi lesi sifo njengefa - 50/50, kungakhathalekile ukuthi ucansi nengane kanye isibalo sokukhulelwa.

Isakhi Ushintshe isendaweni ingalo esifushane chromosome lwesithathu. Uma wayefisa, abacwaningi obungaveza endaweni lapho ukwaziswa kwezakhi zofuzo is phansi ukushintsha. Ngokuvamile, yilesi sakhi buqonda iprotheni eyaziwa emibuthanweni wezesayensi filamin B. Kufeza indima esemqoka ekuthuthukisweni kwe-cytoskeleton. Ukuguqula izakhi zofuzo kuholele yokuthi amaprotheni iyeke ukwenza umsebenzi walo, futhi kusukela kulesi, the emangqamuzaneni omzimba kukhona ethintekile.

Abantu nale mosaicism syndrome kungenzeka. Okungukuthi, kobukhulu kanye nenani izimpawu zesifo encike ngqo kwi inani lamaseli ihlaselwe. Abanye abantu bangase bangafuni ngisho usola ukuthi banayo isici ukuba sibe yilesi sakhi.

lwezifo

Larsen syndrome ngezinga elifanayo e kokubili amadoda nabesifazane. Kulinganiselwa ukuthi cishe ukephi, lesi sifo kwenzeka kwelinye aphume nosana ayizinkulungwane ezingamakhulu. Kuyinto, ngenhlanhla, ivelakancane. Izilinganiso ezibhekwa alithembekile ngoba kukhona abanye nobunzima ekukhombeni le syndrome.

Ngokokuqala ngqá sifo e-izincwadi zezokwelapha ezisekelwe ekwazisweni iye yachazwa ezinhlwini ezingu Maphakathi nekhulu le-lamashumi amabili. Lauren uLarsen nozakwethu wathola futhi iqoshwe amacala ayisithupha yalesi sifo ngo-izingane.

izimpawu

Larsen syndrome, njengoba kushiwo ngenhla, kungaba kubonakaliswe ngezindlela eziningi, ngisho kwezihlobo eziseduze. Izimpawu sici iningi isifo ezibhekwa ukushintsha amathambo ebusweni. Lezi zihlanganisa: okuvulekile kwebhuloho eliphansi ekhaleni kanye ebunzini ububanzi, ubuso flat, khona emfantwini lip engenhla noma ulwanga. Ngaphezu kwalokho, izingane dislocations amalunga ezinkulu (hip, amadolo, indololwane) kanye subluxation ehlombe.

Iminwe zabantu esifushane, ezibanzi, nge amalunga omzimba ebuthaka babe okuxekethile. I isihlakala kungenzeka amathambo ezengeziwe uhlangane ngeminyaka futhi aphule Biomechanics ukunyakaza ngokukhululekile. Kwabanye abantu, kukhona into enjalo ezingavamile njengoba tracheomalacia (noma ukuthambisa we uqwanga we kuqhoqhoqho).

ukuhlola

Sifo "Larsen syndrome" is kuphela ngemva luhlolo egcwele isiguli, ukucabangela ngokucophelela umlando wakhe kanye ne-medical khona isici izimpawu-X-ray. Ngaphezu kwalokho, ukuhlola umnyuziki radiographic kungembula kwezinso futhi ezihambisana nentuthuko lwamathambo, okuyizinto ngokungaqondile ezihlobene nesifo.

Ultrasound uphethwe ngo utero kungase kwembule Larsen syndrome. Izithombe ithambo abahlele oqeqeshwe kahle ultrasound Uchwepheshe kungaba yekucala ukucinga kwezinso zofuzo umbungu. Njengoba efika kuqala awukwazi ukusho ukuthi inhlobo yesifo kuye kwaholela zokugula Yekhanda ebusweni namathambo wemikhawulo, umama okhulelwe Kunconywa ukuba enze amniocentesis nokuziphatha luhlolo zofuzo ukucinga ukuguquka kwezakhi zofuzo e-chromosome lwesithathu.

Uma lesi sifo kuqinisekisiwe, kodwa lo mbhangqwana kangangokuthi wanquma silondoloze sokukhulelwa, umama okhulelwe Kunconywa ukwenza caesarean inqubo sigaba, ngakho njengoba ilimaze amathambo wengane ngesikhathi ndima yayo ngokusebenzisa ukhalo abesifazane nge ukulethwa lwesitho sangasese sowesifazane.

ukwelashwa

izinyathelo zokwelapha kungukuthi okuhloswe ngaso ukuqedwa isifo, futhi ukunciphisa izimpawu emtholampilo. Lokhu kwakuhilela nodokotela bezingane, orthopedists, ongoti ukuhlinzwa maxillofacial nofuzo. Ngemva kokuhlaziywa isimo sokuqala ingane futhi zihlole zonke izingozi, baqale ukulungisa ukwephulwa ezikhona.

Inketho awayiphazamisi kakhulu, okuyinto iphathwa Larsen syndrome - massage. Kuyadingeka ukuba uqinise imisipha nemisipha ukuthi ubambe amalunga, ukuthuthukisa nokugcinwa emuva bese uyaqondisa yomgogodla. Kodwa ngaphambi kokuqhubeka izindlela zokwelapha ezidinga eziningi imisebenzi. Bayadingeka sokulungisa ukusonteka okwedlulele noma sengozini lwamathambo, njengoba sinjalo vertebral. Lapho tracheomalacia zidinga intubation bese ukubeka tube ukuphefumula (eqhubekayo), okuzokwenza silondoloze patency we umgudu engenhla.

Ukwelashwa yalesi sifo - inqubo eside ukuthi kungathatha iminyaka. Nge nokuvuthwa umntwana kwandisa umthwalo phezu kwamathambo, futhi kungase futhi kudingeka nokuvuselelwa ngokomzimba, Physiotherapy, futhi mhlawumbe ahlinzwe.