Dostostosis Cleidocranial

ʻO Cleidocranial dysostosis kahi maʻi e pili ana i ka hoʻomohala ʻole ʻana o nā iwi i ka iwi poʻo a me ke kola (clavicle).

Hoʻokumu ʻia ʻo Cleidocranial dysostosis e kahi ʻano ʻē. Ua hoʻoili ʻia i waena o nā ʻohana ma ke ʻano he mana autosomal. ʻO ia ka mea pono wale nō ʻoe e kiʻi i ka ʻāpana ʻokoʻa mai hoʻokahi makua i mea e hoʻoilina ai ʻoe i ka maʻi.

ʻO Cleidocranial dysostosis kahi kūlana hānau, ʻo ia hoʻi aia ia ma mua o ka hānau ʻana. Hoʻohālikelike ke ʻano i nā kaikamahine a me nā keikikāne.

Loaʻa ka poʻe me ka cleidocranial dysostosis i ka iwi ā a me ka ʻaoʻao o ka ʻaoʻao e kū i waho. ʻO ka waena o ko lākou ihu (ihal bridge) ākea.

E nalowale ana a hoʻomōhala kino paha nā iwi kola. Hoʻopiʻi kēia i nā poʻohiwi i mua o ke kino.

ʻAʻole hāʻule nā ​​niho mua i ka manawa i manaʻo ʻia. Hiki ke ulu aʻe nā niho o nā mākua ma hope o ka maʻamau a ulu aʻe kahi niho keu o nā mākua makua. ʻO kēia ke kumu o ke kekee o nā niho.

ʻO ka pae o ka ʻike pinepine ka maʻamau.

ʻO nā ʻōuli ʻē aʻe e like me:

• Ka hiki ke hoʻopili pū i nā poʻohiwi i mua o ke kino
• ʻO ka pani pani ʻia o nā fontanelles ("nā wahi palupalu")
• Loose ami
• Ka lae kaulana (frontal bossing)
• Nā pale lima pōkole
• Manamana pōkole
• Kūlana pōkole
• Hoʻonui i ka makaʻu o ka loaʻa ʻana o ka wāwae pālahalaha, ka curvature abnormal o ka spine (scoliosis) a me nā deformities o ke kuli
• ʻO ke kūlana kiʻekiʻe o ka hoʻolohe ʻana ma muli o nā maʻi
• Hoʻonui i ka makaʻu o ka haki ma muli o ka hoʻemi ʻia o ka nui o ka iwi

E lawe ka mea mālama ola i ka mōʻaukala o kou ʻohana. E hana ana ka mea hāʻawi i kahi hoʻokolokolo kino a hana paha i nā lālani x-ray e nānā ai:

• Ka ulu o ka iwi iwi
• Ka ulu o ka poʻohiwi
• ʻO ka holo ʻole o ka wahi i mua o ka iwi pelvis e pani

ʻAʻohe mālama kūikawā no ia a pili ka mālama ʻana i nā ʻōuli o kēlā me kēia kanaka. Pono ka hapa nui o ka poʻe me ka maʻi:

• Mālama niho maʻamau
• Pale nā ​​poʻo poʻo i nā iwi iwi poʻo a pani lākou
• Paipu pepeiao no nā maʻi pepeiao pinepine
• ʻO ke ʻoki kino e hoʻoponopono ai i nā mea pono ʻole o ka iwi

Hiki ke ʻike hou aku i ka ʻike a me ke kākoʻo no ka poʻe me ka disidosis cleidocranial a me ko lākou mau ʻohana ma:

• ʻO ka poʻe liʻiliʻi o ʻAmelika - www.lpaonline.org/about-lpa
• Nā maka: ka National Craniofacial Association - www.faces-cranio.org/
• Ke Keiki Craniofacial Association - ccakids.org/

I ka hapanui o nā hihia, pilikia nā ʻōuli o ka iwi i kekahi mau pilikia. He mea nui ka mālama niho kūpono.

Hoʻopilikia i nā pilikia niho a me nā heʻe poʻohiwi.

Kāhea i kāu mea mālama ola inā loaʻa iā ʻoe:

• ʻO ka moʻolelo ʻohana o ka cleidocranial dysostosis a ke hoʻolālā nei i kahi keiki.
• Keiki me nā ʻōuli like.

Kūpono ke ʻōlelo aʻo genetic inā he kanaka me ka ʻohana a i ʻole ka mōʻaukala pilikino o ka cleidocranial disostosis e hoʻolālā nei i nā keiki. ʻIke ʻia ka maʻi i ka wā hāpai.

ʻO ka dysplasia Cleidocranial; Dento-osseous dysplasia; Maʻi maʻi ʻo Marie-Sainton; CLCD; Dysplasia cleidocranial; ʻO ka displasia osteodental

Hecht JT, Horton WA, Rodriguez-Buritica D. Nā maʻi e pili ana i nā mea kākau. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 718.

Lissauer T, Carroll W. Nā maʻi Musculoskeletal. I: Lissauer T, Carroll W, eds. ʻO ka puke kākau moʻolelo no Paediatrics. 5th lā. Piladelapia, PA: Elsevier; 2018: chap 28.

National Center no ka holomua ʻana i ka ʻepekema unuhi. Ka Pūnaewele ʻIke Genetic and Rare Diseases. ʻO Displasia Cleidocranial. rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia. Hoʻohou i ʻAukake 19, 2020. Loaʻa iā ʻAukake 25, 2020.

Pūnaewele Institute of Health. ʻIkepili Home Genetics. ʻO Displasia Cleidocranial. ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#sourceforpage. Hoʻohou i Ianuali 7, 2020. Loaʻa iā Ianuali 21, 2020.