| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.1%) |
23926365 (3687608) |
A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report. Kitaoka T, Namba N, Kim JY, Kubota T, Miura K, Miyoshi Y, Hirai H, Kogo M, Ozono K. Clin Pediatr Endocrinol. 2009;18(3):81-6. |
| 腓骨無形成 腓骨低形成 唇裂 | ||
| 2 (49.1%) |
30151452 (6100663) |
A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report. Smets G, Vankan Y, Demeyere A. J Belg Soc Radiol. 2016;100(1):41. |
| 腓骨無形成 腓骨低形成 | ||
| 2 (49.1%) |
25386471 |
FATCO Syndrome Variant - Fibular Hypoplasia, Tibial Campomelia and Oligosyndactyly -- A Case Report. Goyal N, Kaur R, Gupta M, Bhatty S, Paul R. J Clin Diagn Res. 2014;8(9):LD01-2. |
| 腓骨無形成 腓骨低形成 | ||
| 4 (45.9%) |
31061754 |
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation. Onder Ylmaz H, Topak D, Ylmaz O, Cakmakl S. J Pediatr Genet. 2019;8(2):95-99. |
| 腓骨無形成 | ||
| WNT7A | ||
| 4 (45.9%) |
27164350 |
[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly]. D'Amato Gutierrez M, Palacio Diaz FA. Arch Argent Pediatr. 2016;114(3):e167-70. |
| 腓骨無形成 | ||
| つま先 ヒト 先天性手変形 先天性足変形 合指症 手指 新生児 男 腓骨 | ||
| 4 (45.9%) |
21965580 |
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Ekbote AV, Danda S. Foot Ankle Spec. 2012;5(1):37-40. |
| 腓骨無形成 | ||
| WNT7A | ||
| クラインフェルター症候群 ヒト リスク評価 先天性手変形 合指症 希少疾患 幼児 男 疾患の遺伝的素因 症候群 腓骨 | ||
| 4 (45.9%) |
20964118 |
A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report. Karaman A, Kahveci H. Genet Couns. 2010;21(3):285-8. |
| 腓骨無形成 | ||
| つま先 ヒト ヘテロ接合体検出 出生前超音波検査 合指症 奇肢症 女 妊娠 新生児 男 症候群 腓骨 表現型 | ||
| 4 (45.9%) |
15754355 |
Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. Courtens W, Jespers A, Harrewijn I, Puylaert D, Vanhoenacker F. Am J Med Genet A. 2005;134(3):321-5. |
| 腓骨無形成 | ||
| つま先 ヒト 先天性脚変形 手指 新生児 男 症候群 腓骨 |
合計: 10
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0002991 | 腓骨の異常 | Very frequent (99-80%) |
| HP:0002992 | 脛骨の異常 | Very frequent (99-80%) |
| HP:0004050 | 手欠損 | Very frequent (99-80%) |
| HP:0001171 | 裂手 | Frequent (79-30%) |
| HP:0001622 | 早産 | Frequent (79-30%) |
| HP:0001626 | 心血管系 | Frequent (79-30%) |
| HP:0002093 | 呼吸不全 | Frequent (79-30%) |
| HP:0004322 | 低身長 | Frequent (79-30%) |
| HP:0006101 | 合指症 | Frequent (79-30%) |
| HP:0008368 | 足根骨癒合症 | Frequent (79-30%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002990 | 腓骨無形成 | 8 |
| HP:0003038 | 腓骨低形成 | 2 |
合計: 0
| Gene Symbol | 遺伝子名 | Entrez Gene ID |
|---|