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頁籤選單縮合
題名 | Bilateral Diaphragmatic Defect and Associated Multiple Anomalies=兩側橫膈缺損合併多種先天異常 |
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作者姓名(外文) | Karadeniz, Leyla; Guven, Sirin; Atay, Enver; Ovali, Fahri; Celayir, Aysenur; | 書刊名 | Journal of the Chinese Medical Association |
卷期 | 72:3 2009.03[民98.03] |
頁次 | 頁163-165+CA32 |
分類號 | 415.39 |
關鍵詞 | 合併先天異常; 兩側橫膈發育不全; 膽囊不發育; 肺發育不全; Associated anomalies; Bilateral diaphragmatic agenesis; Gallbladder agenesis; Pulmonary hypoplasia; |
語文 | 英文(English) |
英文摘要 | Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. The patient experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively, and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gallbladder agenesis. Cytogenetic studies showed normal male karyotype. Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with gallbladder and unilateral pulmonary agenesis is a rare entity, and its clinical significance needs further investigation. |
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