| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.4%) |
3799723 |
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL. Am J Med Genet. 1986;25(1):47-59. |
| 短い肋骨 幅広い長管骨 | ||
| ヒト 低身長症 劣性遺伝子 女 新生児 男 致死遺伝子 骨盤 骨軟骨異形成症 | ||
| 2 (37.4%) |
11200994 |
Schneckenbecken dysplasia, radiology, and histology. Nikkels PG, Stigter RH, Knol IE, van der Harten HJ. Pediatr Radiol. 2001;31(1):27-30. |
| 短い長管骨 | ||
| タナトフォリック骨異形成症 ヒト 女 妊娠 浮腫 致死的転帰 | ||
| 3 (21.2%) |
19508970 (4144354) |
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. J Med Genet. 2009;46(8):562-8. |
| 骨格異形成 | ||
| SLC35D1 | ||
| c|SUB|A|193|C;RS#:267607062 c|SUB|A|IVS4+3|G c|SUB|C|319|T;RS#:267607063 p|FS|L|109||18 p|FS|R|178||15 p|SUB|R|107|X;RS#:267607063 p|SUB|T|65|P;RS#:267607062 rs267607062 rs267607063 | ||
| Molecular Sequence Data PCR法 ヌクレオチド ヒト 出芽酵母 分子クローニング 単糖輸送体 塩基配列 変異 女 妊娠 男 発達性骨疾患 胎児疾患 遺伝子欠失 配列アライメント | ||
| 3 (21.2%) |
19407457 |
Schneckenbecken dysplasia in fetus: report of four cases. Lahmar-Boufaroua A, Yacoubi MT, Belaid L, Delezoide AL. Fetal Diagn Ther. 2009;25(2):216-9. |
| 骨格異形成 | ||
| ヒト 出生前超音波検査 女 妊娠 成人 骨軟骨異形成症 | ||
| 3 (21.2%) |
15386610 |
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. Varkey JJ, Jones RA. Ultrasound Obstet Gynecol. 2004;24(5):575-7. |
| 骨格異形成 | ||
| タナトフォリック骨異形成症 ヒト 出生前超音波検査 女 妊娠 成人 胎児死亡 | ||
| 3 (21.2%) |
7824994 |
Case report 870. Schneckenbecken dysplasia, possibly a new variant. Sillence D, Delprado W, Edwards M, Kozlowski K. Skeletal Radiol. 1994;23(7):586-8. |
| 骨格異形成 | ||
| ヒト 女 新生児 骨 骨盤骨 骨軟骨異形成症 | ||
| 7 (4.0%) |
14566438 |
Metatropic dysplasia lethal variants. Hall CM, Elcioglu NH. Pediatr Radiol. 2004;34(1):66-74. |
| 錯乱 | ||
| ヒト 女 幼児 新生児 男 胎児死亡 胎児疾患 骨 骨軟骨異形成症 |
合計: 26
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000256 | 大頭 | Very frequent (99-80%) |
| HP:0000272 | 平坦な頬 | Very frequent (99-80%) |
| HP:0000470 | 短い頸部 | Very frequent (99-80%) |
| HP:0000773 | 短い肋骨 | Very frequent (99-80%) |
| HP:0000774 | 狭い胸郭 | Very frequent (99-80%) |
| HP:0000882 | 肩甲骨低形成 | Very frequent (99-80%) |
| HP:0000895 | 鉤状鎖骨 | Very frequent (99-80%) |
| HP:0000944 | 骨幹端の異常 | Very frequent (99-80%) |
| HP:0000946 | 腸骨低形成 | Very frequent (99-80%) |
| HP:0001004 | リンパ性浮腫 | Very frequent (99-80%) |
| HP:0001561 | 羊水過多 | Very frequent (99-80%) |
| HP:0002983 | 小肢症 | Very frequent (99-80%) |
| HP:0003038 | 腓骨低形成 | Very frequent (99-80%) |
| HP:0003312 | 椎体骨形態異常 | Very frequent (99-80%) |
| HP:0008479 | 椎体骨低形成 | Very frequent (99-80%) |
| HP:0008873 | 不均衡型短肢低身長 | Very frequent (99-80%) |
| HP:0012107 | 腓骨直径の増加 | Very frequent (99-80%) |
| HP:0000028 | 停留精巣 | Frequent (79-30%) |
| HP:0000268 | 長頭 | Frequent (79-30%) |
| HP:0001231 | 指爪の異常 | Frequent (79-30%) |
| HP:0001800 | 趾爪低形成 | Frequent (79-30%) |
| HP:0000175 | 口蓋裂 | Occasional (29-5%) |
| HP:0000947 | ダンベル型長管骨 | Occasional (29-5%) |
| HP:0005019 | 骨幹の肥厚 | Occasional (29-5%) |
| HP:0005616 | 骨成熟促進 | Occasional (29-5%) |
| HP:0008108 | 足根骨骨化促進 | Occasional (29-5%) |
合計: 1
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0002652 | 骨格異形成 | 3 |