Achondrogenesis

ʻO Achondrogenesis kahi ʻano lahilahi o ka hemahema o ka ulu ʻana o ka ulu a kahi hemahema i ka hoʻomohala ʻana o ka iwi a me ka cartilage.

Ua hoʻoilina ʻia ʻo Achondrogenesis, ʻo ia hoʻi ua hoʻoili ʻia i waena o nā ʻohana.

ʻIke ʻia he recessive kekahi mau ʻano, ʻo ia hoʻi ka hāpai ʻana o nā mākua i ka ʻāpana hemahema. ʻO ka manawa kūpono e hoʻopilikia ʻia ai kahi keiki ma hope he 25%.

Pākuʻi ʻia paha nā ʻōuli:

• He kumu pōkole loa, nā lima, nā wāwae, a me ka ʻāʻī
• Kū nui ke poʻo e pili ana i ka pahu
• Iwi lalo liʻiliʻi
• Puʻupuʻu paʻa

Hōʻike nā kukuna X i nā pilikia iwi i pili i ke ʻano.

ʻAʻohe o kēia manawa therapy. E kamaʻilio me kāu mea mālama ola e pili ana i nā hoʻoholo mālama.

Makemake paha ʻoe e ʻimi i ka ʻōlelo aʻoaʻo kūlohelohe.

ʻO ka hopena ua ʻilihuna loa. He nui nā pēpē me ka achondrogenesis i hānau hānau a make paha ma hope koke o ka hānau ʻana ma muli o nā pilikia hanu e pili ana i ka umauma liʻiliʻi maʻamau.

ʻO kēia kūlana he mea make pinepine i ke ola.

Kuhi pinepine ʻia kēia ʻano ma ka hōʻike mua o kahi pēpē.

Grant LA, Griffin N. ʻO nā anomalies skeletal skeletal. I: Grant LA, Griffin N, nā hua. Grainger & Allison's Diagnostic Radiology Pono. ʻElua ed. Piladelapia, PA: Elsevier; 2019: chap 5.10.

ʻO Hecht JT, Horton WA, ʻo Rodriguez-Buritica D. Nā maʻi e pili ana i nā mea lawe ion. 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 717.