KEGG   DISEASE: Ischiocoxopodopatellar 症候群
エントリ  
H00461                                                             
名称    
Ischiocoxopodopatellar 症候群;
股関節足膝蓋骨症候群;
小膝蓋骨症候群;
Scott-Taor 症候群
概要    
Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H00461  Ischiocoxopodopatellar 症候群
病因遺伝子 
TBX4 [HSA:9496] [KO:K10178]
リンク   
ICD-11: LD24.JY
MeSH: C535540
OMIM: 147891
文献    
PMID:15106123
  著者
Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H
  タイトル
Mutations in the human TBX4 gene cause small patella syndrome.
  雑誌
Am J Hum Genet 74:1239-48 (2004)
DOI:10.1086/421331
文献    
PMID:9133358
  著者
Azouz EM, Kozlowski K
  タイトル
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.
  雑誌
Pediatr Radiol 27:432-5 (1997)
DOI:10.1007/s002470050163
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