I-Cleidocranial dysostosis

I-Cleidocranial dysostosis yisifo esihilela ukukhula okungajwayelekile kwamathambo endaweni yogebhezi nokhololo (clavicle).

I-Cleidocranial dysostosis ibangelwa uhlobo olungajwayelekile. Idluliselwa emindenini njengesici esivelele se-autosomal. Lokho kusho ukuthi udinga kuphela ukuthola isakhi esingajwayelekile kumzali oyedwa ukuze uzuze lesi sifo njengefa.

I-Cleidocranial dysostosis yisimo sokuzalwa, okusho ukuthi sikhona ngaphambi kokuzalwa. Lesi simo sithinta amantombazane nabafana ngokulinganayo.

Abantu abane-cleidocranial dysostosis banendawo yomhlathi nebunzi ebambekayo. Maphakathi nekhala labo (ibhuloho lamakhala) libanzi.

Amathambo ekhola kungenzeka alahlekile noma athuthukiswe ngokungajwayelekile. Lokhu kududula amahlombe ndawonye phambi komzimba.

Amazinyo ayisisekelo awaveli ngesikhathi esilindelekile. Amazinyo abantu abadala angase akhule emuva kwesikhathi esivamile futhi kungakhula amazinyo abantu abadala. Lokhu kubangela ukuthi amazinyo agwegwe.

Izinga lobuhlakani livame kakhulu.

Ezinye izimpawu zifaka:

• Amandla okuthinta amahlombe ndawonye phambi komzimba
• Ukuvalwa okulibazisekile kwama-fontanelles ("izindawo ezithambile")
• Amalunga okuxega
• Isiphongo esivelele (ukuqashwa kwangaphambili)
• Izandulela ezimfushane
• Iminwe emifushane
• Isiqu esifushane
• Ingozi eyengeziwe yokuthola unyawo oluyisicaba, ukugobeka okungavamile komgogodla (i-scoliosis) nokukhubazeka kwamadolo
• Ingozi enkulu yokulahlekelwa ukuzwa ngenxa yezifo
• Ingozi eyengeziwe yokuphuka ngenxa yokuncipha kwamathambo

Umhlinzeki wezempilo uzothatha umlando womndeni wakho. Umhlinzeki uzokwenza ukuhlolwa komzimba futhi angenza uchungechunge lwama-x-ray ukuze ahlole:

• Ngaphansi komgogodla we-collarbone
• Undergrowth we blade ehlombe
• Ukwehluleka kwendawo engaphambi kwethambo le-pelvis ukuvala

Akukho ukwelashwa okuqondile ngakho futhi ukuphathwa kuncike ezimpawu zomuntu ngamunye. Iningi labantu abanesifo badinga:

• Ukunakekelwa kwamazinyo njalo
• Amagiya ekhanda ukuvikela amathambo ogebhezi aze avale
• Amashubhu endlebe okutheleleka njalo endlebeni
• Ukuhlinzwa ukulungisa noma ikuphi ukungahleleki kwethambo

Imininingwane engaphezulu nokusekelwa kwabantu abane-cleidocranial dysostosis nemindeni yabo ingatholakala ku:

• Abantu Abancane BaseMelika - www.lpaonline.org/about-lpa
• IZIBONELELO: Inhlangano Kazwelonke Ye-Craniofacial - www.faces-cranio.org/
• I-Children’s Craniofacial Association - ccakids.org/

Ezimweni eziningi, izimpawu zamathambo zidala izinkinga ezimbalwa. Ukunakekelwa kwamazinyo okufanelekile kubalulekile.

Izinkinga zifaka izinkinga zamazinyo nokuhlukaniswa kwamahlombe.

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma une:

• Umlando womndeni we-cleidocranial dysostosis futhi uhlela ukuba nengane.
• Ingane enezimpawu ezifanayo.

Ukwelulekwa ngofuzo kufanelekile uma umuntu onomndeni noma umlando wakhe we-cleidocranial dysostosis ehlela ukuba nezingane. Lesi sifo singatholakala ngesikhathi sokukhulelwa.

I-Cleidocranial dysplasia; I-Dento-osseous dysplasia; Isifo se-Marie-Sainton; I-CLCD; I-Dysplasia cleidocranial; I-osteodental dysplasia

IHecht JT, iHorton WA, uRodriguez-Buritica D. Ukuphazamiseka okubandakanya izinto ezibhaliwe. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 718.

ULissauer T, uCarroll W. Musculoskeletal ukuphazamiseka. Ku: Lissauer T, Carroll W, ama-eds. I-Illustrated Textbook of Paediatrics. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2018: isahluko 28.

Isikhungo Sikazwelonke Sokuthuthukisa Isayensi Yokuhumusha. Isikhungo Sokwaziswa Sezifo Zofuzo. I-Cleidocranial dysplasia. rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia. Kubuyekezwe u-Agasti 19, 2020. Kufinyelelwe ngo-Agasti 25, 2020.

National Institute of Health iwebhusayithi. Isethenjwa sasekhaya se-Genetics. I-Cleidocranial dysplasia. ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#sourceforpage. Kubuyekezwe uJanuwari 7, 2020. Kufinyelelwe ngoJanuwari 21, 2020.