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AKONDROPLAZİ

Sanal Hastane||1 dk okuma
AKONDROPLAZİ

Tedavisi olmayan, sebebi bilinmeyen kalıtsal bir cücelik tipidir. Gövde normal büyüklüte olup, kol ve bacaklar anormal derecede kısa ve baş normalden büyüktür.

Kaynaklar ve Referanslar

  1. [1]Hoover-Fong J, Scott CI, Jones MC, et al. “Health Supervision for People With Achondroplasia.”. Pediatrics. 2020. PMID: 32457214. PubMed →
  2. [2]Hoover-Fong J, Scott CI, Jones MC, et al. “Health Supervision for People With Achondroplasia.”. Pediatrics. 2020. PMID: 32457214. PubMed →
  3. [3]Alves I, Fredwall SO, Hughes M, Ireland PJ, Kaisermann MC, Savarirayan R. “An overview of the International Consensus Statement on achondroplasia”. Orphanet J Rare Dis. 2026. PMID: 41559786. PubMed →
  4. [4]Baujat G, Legeai-Mallet L, Finidori G, et al. “Achondroplasia.”. Best practice & research. Clinical rheumatology. 2008. PMID: 18328977. PubMed →
  5. [5]Baujat G, Legeai-Mallet L, Finidori G, et al. “Achondroplasia.”. Best practice & research. Clinical rheumatology. 2008. PMID: 18328977. PubMed →
  6. [6]Zakheim E, Sachdeva S, Moon D, Ortiz MN, Mistry N, Culler F. “Achondroplasia treatments in children aged 5 and older”. Mol Cell Pediatr. 2025. PMID: 41148554. PubMed →
  7. [7]Taylor-Miller T, Savarirayan R. “Progress in managing children with achondroplasia.”. Expert review of endocrinology & metabolism. 2024. PMID: 39132812. PubMed →
  8. [8]Taylor-Miller T, Savarirayan R. “Progress in managing children with achondroplasia.”. Expert review of endocrinology & metabolism. 2024. PMID: 39132812. PubMed →
  9. [9]Reisert HD, Goynatsky M, Cantor Y, et al.. “Crouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome”. JPRAS Open. 2025. PMID: 41215833. PubMed →
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