Cleidocranial dysostosis

Cleidocranial dysostosis bụ nsogbu metụtara mmepe na-adịghị mma nke ọkpụkpụ na okpokoro isi na olu (clavicle).

Cleidocranial dysostosis sitere na mkpụrụ ndụ na-adịghị mma. Ọ gafere site n'ezinụlọ dị ka ọnọdụ autosomal. Nke ahụ pụtara na naanị ị ga - enweta mkpụrụ ndụ na - adịghị mma site na nne ma ọ bụ nna ka ị wee keta ọrịa ahụ.

Cleidocranial dysostosis bụ ọnọdụ ebumpụta ụwa, nke pụtara na ọ dị site na mgbe amụrụ nwa. Ọnọdụ a na-emetụta ụmụ agbọghọ na ụmụ nwoke nha.

Ndị nwere cleaocranial dysostosis nwere agba na brow ebe na-apụ apụ. N'etiti imi ha (bridge የአፍንጫ) sara mbara.

Ọkpụkpụ olu akwa nwere ike na-efu ma ọ bụ mepụtara n'ụzọ na-adịghị mma. Nke a na-eme ka ubu jikọtara ọnụ n'ihu ahụ.

Isi ezé adaghị na oge a tụrụ anya ya. Ezé ndị tozuru etozu pụrụ ito eto karịa mgbe ọ bụla ọzọ ma ezé nke ezé ndị toro eto na-eto eto. Nke a na-eme ka ezé ahụ gbagọrọ agbagọ.

Ọgụgụ ọgụgụ isi na-abụkarị nke nkịtị.

Mgbaàmà ndị ọzọ gụnyere:

• Ike imetu ubu aka n’ahu
• Emechi mmechi nke fontanelles ("ebe di nro")
• Loose nkwonkwo
• Onye a ma ama n'egedege ihu (njikwa ihu ihu)
• Mkpumkpu aka
• Mkpịsị aka dị mkpirikpi
• Obere ogologo
• Nnukwu ihe ize ndụ nke ịnweta ụkwụ dị larịị, ntụgharị ụkwụ na-adịghị mma nke spine (scoliosis) na nrụrụ ikpere
• Nnukwu ihe ize ndụ nke ịnụ ntị n'ihi ọrịa
• Mmetụta dị ukwuu nke mgbaji ọkpụkpụ n'ihi ụda ọkpụkpụ na-ebelata

Onye nlekọta ahụike ga-ewere akụkọ banyere ezinụlọ gị. Onye na-eweta ọrụ ahụ ga-eme nyocha anụ ahụ ma nwee ike ịme ụzarị ọkụ iji lelee:

• N'okpuru nke olu olu
• Okpuru ubu ubu
• Enweghị ọdịda nke ihu ọkpụkpụ pelvis imechi

Enweghị ọgwụgwọ a kapịrị ọnụ maka ya na njikwa dabere na mgbaàmà nke onye ọ bụla. Imirikiti ndị nwere ọrịa ahụ chọrọ:

• Nlekọta eze mgbe niile
• Isi gia iji kpuchie ọkpụkpụ okpokoro isi ruo mgbe ha mechiri
• Ntị ntị maka ọrịa ntị ugboro ugboro
• Gerywa ahụ iji dozie nsogbu ọkpụkpụ ọ bụla

Enwere ike ịchọta ozi na nkwado maka ndị nwere cleysocranial dysostosis na ezinụlọ ha na:

• Ndị pere mpe nke Amerika - www.lpaonline.org/about-lpa
• IHE: National Craniofacial Association - www.faces-cranio.org/
• ’Smụaka Craniofacial Association - ccakids.org/

N'ọtụtụ ọnọdụ, mgbaàmà ọkpụkpụ na-akpata nsogbu ole na ole. Nlekọta ezé kwesịrị ekwesị dị mkpa.

Nsogbu ndị ahụ gụnyere nsogbu eze na nkwụsị ubu.

Kpọọ onye nlekọta ahụike gị ma ọ bụrụ na ịnwee:

• Akụkọ ihe mere eme nke ezinụlọ nke dysostosis nke cleidocranial ma na-eme atụmatụ ịmụ nwa.
• Withmụaka nwere mgbaàmà yiri ya.

Ndụmọdụ mkpụrụ ndụ ihe nketa kwesịrị ekwesị ma ọ bụrụ na onye nwere ezinụlọ ma ọ bụ akụkọ ntolite nke onwe onye nke cleidocranial dysostosis na-eme atụmatụ ịmụ ụmụ. Enwere ike ịchọpụta ọrịa ahụ n'oge afọ ime.

Ọkpụkpụ dysplasia; Dento-osseous ọnya mmiri; Ọrịa Marie-Sainton; CLCD; Dysplasia cleidocranial; Osteodental dysplasia

Hecht JT, Horton WA, Rodriguez-Buritica D. Nsogbu metụtara ihe ederede. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi nke 718.

Lissauer T, Carroll W. Ọrịa musculoskeletal. Na: Lissauer T, Carroll W, eds. Akwụkwọ Akwụkwọ Nlereanya nke Paediatrics. Nke 5. Philadelphia, PA: Elsevier; 2018: isi 28.

Centerlọ Ọrụ Mba Na-ahụ Maka Mmụta Nsụgharị. Informationlọ Ọrụ Ihe Ọmụma Mkpụrụ Ndụ na Ahụike. Ọrịa dysplasia Cleidocranial. rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia. Emelitere August 19, 2020. Nweta August 25, 2020.

National Institute of Health na ebe nrụọrụ weebụ. Ntughari Homelọ Jenetik. Ọrịa dysplasia nke Cleidocranial. ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#sourcesforpage. Emelitere Jenụwarị 7, 2020. Nabata Jenụwarị 21, 2020.