| H00929 | |
| H番号 | H00929 |
| 名称 | 先天性垂直距骨 |
| 概要 | Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HOXD10 [HSA:3236] [KO:K09295] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB98.4 ICD-10: Q66.8 MeSH: C536345 OMIM: 192950 |
| 文献 | PMID:20645034 著者 Merrill LJ, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB タイトル Skeletal muscle abnormalities and genetic factors related to vertical talus. 雑誌 Clin Orthop Relat Res 469:1167-74 (2011) DOI:10.1007/s11999-010-1475-5 PMID:15368082 著者 Levinsohn EM, Shrimpton AE, Cady RB, Packard DS, Hootnick DR タイトル Congenital vertical talus in four generations of the same family. 雑誌 Skeletal Radiol 33:649-54 (2004) DOI:10.1007/s00256-004-0851-1 PMID:15146389 著者 Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR タイトル A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 雑誌 Am J Hum Genet 75:92-6 (2004) DOI:10.1086/422015 PMID:16450407 著者 Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM タイトル HOXD10 M319K mutation in a family with isolated congenital vertical talus. 雑誌 J Orthop Res 24:448-53 (2006) DOI:10.1002/jor.20052 |