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4q 缺失症候群 Deletion 4q Syndrome
Cited (10)
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2018/11/5 14:48:54
1617
4q 缺失症候群
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1.生長: 2.智能: 3.顱顏: |
出生後生長遲緩 中重度智障 眼距寬 短鼻 小頜 |
83% 92% 56% 67% 94% |
低張 裂顎 寬鼻樑
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28% 94% 94% |
抽筋 低位耳,後翻 耳廓異常 |
17% 56% 67% |
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4.四肢:
5.其他:
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第5指內彎44%,指尖變細50%,指甲變複製33% flexion紋異常:56% 姆趾/指位置異常61% ,overlapping 22% 心臟(61%,VSD,PDA,PPS,AS,TA,ASD,coarch,TF) 泌尿生殖50%,胃腸22% |
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偶見: |
臉不對稱眼瞼上斜,短小頜內貲眼 外翻鼻孔 兔唇缺指 |
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