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題名 | 全前腦畸形=Holoprosencephaly |
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作 者 | 周國燊; 莊瑜瑜; | 書刊名 | 蘭陽醫誌 |
卷期 | 1:1 民95.03 |
頁次 | 頁37-41 |
分類號 | 417.107 |
關鍵詞 | 全前腦畸形; 腦部超音波檢查; Holoprosencephaly; Neurosonograghy; |
語文 | 中文(Chinese) |
中文摘要 | 全前腦畸形是胚胎早期前腦(prosencephalon)無法分裂演化,發育停頓而形成,嬰兒常會有腦及臉部中線發育異常。本病例為第二胎女嬰,孕期38週,出生重3040公克。產前超音波檢查正常,出生後則發現有小頭皮臉部中線發育畸形(兔唇、?裂、缺人中、鼻孔及鼻中膈)。顱部超音波及頭部電腦斷層掃描檢查,發現有單一腦室與大的背囊,融合的視丘及腦間溝不明顯等異常。病嬰染色體正常(46,XX),於出生第12天死亡。雖然本病例是產後被診斷出來,但未來仍希望藉由超音波在胎兒期做正確診斷,對胎兒的優生及健康諮詢,會有很大幫助。 |
英文摘要 | The patient was a female term newborn baby. She was delivered spontaneously by a G2P2 mother. Her prenatal history was unremarkable. The birth weight was 3,040 grams. At birth, she had a small head girth (29.5cm). there were also hypotelorism, median cleft lip and palate, absence of nasal septum, nasal cavity and philtrum. The median cleft lip and palate, absence of nasal septum, nasal bone and crista galli. Neurosonographic study showed a large horse-hoe shaped single ventricle, fused thalami, and a posterior telencephalic cyst. The dorsal sac communicated with the single ventricle. The brain CT scan demonstrated evidence of intercerebral fissure at the superior frontal region. Based on these findings, the baby was diagnosed as a case of holoprosencephaly. The result of her cytogenetic chromosomal study was 46,XX. She died at the age of twelve day. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。