I-Cleidocranial dysostosis
I-Cleidocranial dysostosis sisifo esichaphazela ukukhula okungaqhelekanga kwamathambo kwindawo yokakayi kunye nekhola (clavicle).
I-Cleidocranial dysostosis ibangelwa yimfuza engaqhelekanga. Idluliswa kwiintsapho njengeyona nto iphambili kwi-autosomal. Oko kuthetha ukuba ufuna kuphela ukufumana uhlobo olungaqhelekanga kumzali omnye ukuze usifumane esi sifo.
I-Cleidocranial dysostosis yimeko yokuzalwa, oko kuthetha ukuba ikho ngaphambi kokuzalwa. Le meko ichaphazela amantombazana namakhwenkwe ngokulinganayo.
Abantu abane-dysidosis ye-cleidocranial banemihlathi kunye nendawo yebrey ehambelana nayo. Umbindi wempumlo (ibhulorho lempumlo) banzi.
Amathambo ekhola anokulahleka okanye akhule ngokungaqhelekanga. Oku kutyhala amagxa ngokudibeneyo phambi komzimba.
Amazinyo asezantsi awaveli ngexesha elilindelweyo. Amazinyo abantu abadala anokukhula mva kunesiqhelo kwaye kungakheka namanye amazinyo abantu abadala. Oku kubangela ukuba amazinyo abe goso.
Inqanaba lobukrelekrele lihlala liqhelekile.
Ezinye iimpawu zibandakanya:
- Amandla okuchukumisa amagxa ngokudibeneyo phambi komzimba
- Ukuvalwa okulibazisekileyo kweefontelles ("amabala athambileyo")
- Ukudibanisa amalungu
- Ibunzi eliphambili (umphathi wangaphambili)
- Imikhono emfutshane
- Iminwe emifutshane
- Isiqu esifutshane
- Umngcipheko owandayo wokufumana iinyawo ezicabaleleyo, ukugobeka okungaqhelekanga komqolo (scoliosis) kunye namadolo
- Umngcipheko omkhulu wokulahleka kwendlebe ngenxa yosulelo
- Umngcipheko owandileyo wokuqhekeka ngenxa yokuncipha kwethambo
Umboneleli wezempilo uya kuthatha imbali yosapho lwakho. Umboneleli uya kwenza uvavanyo lomzimba kwaye angenza uthotho lwe-x-reyi ukukhangela:
- Ngaphantsi kwekhola
- Ngaphantsi kwegxalaba
- Ukungaphumeleli kwendawo phambi kwethambo le-pelvis ukuvala
Akukho lunyango oluthile kuyo kwaye ulawulo luxhomekeke kwiimpawu zomntu ngamnye. Uninzi lwabantu abanesifo badinga:
- Ukunyamekelwa rhoqo kwamazinyo
- Izixhobo zentloko ukukhusela amathambo okakayi ade avale
- Iityhubhu zeendlebe zosulelo lwendlebe rhoqo
- Ugqirha ukulungisa nayiphi na into engaqhelekanga kwithambo
Olunye ulwazi kunye nenkxaso yabantu abane-cleidocranial dysostosis kunye neentsapho zabo zifumaneka:
- Abantu abancinci baseMelika-www.lpaonline.org/about-lpa
- IINKCUKACHA: Umbutho weSizwe weCranofacial Association - www.faces-cranio.org/
- Umbutho wabantwana weCranofacial Association - ccakids.org/
Kwiimeko ezininzi, iimpawu zethambo zibangela iingxaki ezimbalwa. Unonophelo olufanelekileyo lwamazinyo lubalulekile.
Iingxaki zibandakanya iingxaki zamazinyo kunye nokususwa kwamagxa.
Fowunela umboneleli wakho wezempilo ukuba unayo:
- Imbali yosapho ye-cleverocranial dysostosis kwaye baceba ukuba nomntwana.
- Umntwana oneempawu ezifanayo.
Ingcebiso ngemfuzo kufanelekile ukuba umntu onosapho okanye onembali yobuqu yedysostosis icwangcisa ukuba nabantwana. Esi sifo sinokufunyanwa ngexesha lokukhulelwa.
Cleidocranial idysplasia; IDento-osseous dysplasia; Isifo sikaMarie-Sainton; I-CLCD; Ukucocwa kwedysplasia; I-Osteodental dysplasia
IHecht JT, Horton WA, Rodriguez-Buritica D. Ukuphazamiseka okubandakanya izinto ezikhutshelweyo. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl 718.
I-Lissauer T, uCarroll W.Ukuphazamiseka kwemisipha. Ku: Lissauer T, Carroll W, ii-eds. Incwadi ebhaliweyo yemifanekiso yePediatrics. Umhla we-5. IPhiladelphia, PA: Elsevier; I-2018: isahluko 28.
IZiko leLizwe lokuqhubela phambili iiNzululwazi zoGuqulelo. Iziko loLwazi lweZifo zeMvelo kunye neRare. Cleidocranial dysplasia. irudisoinfo.info.nih.gov/diseases/6118/cleidocranial-dysplasia. Ukuhlaziywa kuka-Agasti 19, 2020. Ifikeleleke ngo-Agasti 25, 2020.
Iziko leSizwe lezeMpilo. Isalathiso seKhaya laseGenetics. Cleidocranial dysplasia. ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#sourceforpage. Ukuhlaziywa ngoJanuwari 7, 2020. Ukufikelela ngoJanuwari 21, 2020.