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題 名 | Alobar Holoprosencephaly: Report of Two Case with Unusual Findings=無分葉性全前腦症:二病例報告 |
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作 者 | 張莉幸; | 書刊名 | 長庚醫學 |
卷 期 | 26:9 2003.09[民92.09] |
頁 次 | 頁700-706 |
分類號 | 417.143 |
關鍵詞 | 無分葉性全前腦症; 多指症; 多分葉型脾臟; Alobar holoprosencephaly; Polydactyly; Polysplenia; |
語 文 | 英文(English) |
中文摘要 | 全前腦症是由於前腦在分製或分化過程中有不同階段或不同程度不完全發育所造成。本文提出二例報告,其類似的臨床表徵為小頭、小眼、眼距過近、單一鼻孔、後鼻孔不通、假性顎裂、腹脹及四肢發紫,相同的超音波檢查發現為單一U型腦室和合而為一的丘腦,相同的病理解剖報告為單一腦室、後方有一開口、合而為一的丘腦、沒有嗅神經及視神經,腦下腺、甲狀腺及腎上腺皆發育不良。兩患者染色體檢查皆正常。其中病例一具有少見之多分葉型脾臟,病例二具全前腦症-多指症候群之臨床特徵。因為此症預後差,建議及早作產前診斷。 |
英文摘要 | Holoprosencephaly, a disorder resulting from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly. Imcrophthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomaen, and acrocyansis. The brain echogram of these 2 patients demonstrated fused thalami and a single large U-shaped ventricular cavity. Chromosome studies of these 2 patients were normal. The findings of the autopsises confirmed the clinical presentations. One of our cases had a clinical piture similar to that of holoprosencephaly-ploydactyly syndrome. The other had the rare anatomical finding of a ploylobuated spleen. Because of the poor prognosis of alobar holoprosencephyaly, early prenatal diagnosis is recommended. |
本系統中英文摘要資訊取自各篇刊載內容。