https://scholars.lib.ntu.edu.tw/handle/123456789/524972
標題: | Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome | 作者: | FRANK LEIGH LU Hou J.-W. Tsai W.-S. Teng R.-J. Yau K.-I.T. Wang T.-R. |
關鍵字: | congenital nephrotic syndrome; epiglottic aplasia; Langer-Giedion syndrome; tricho-rhino-phalangeal syndrome | 公開日期: | 1997 | 卷: | 96 | 期: | 3 | 起(迄)頁: | 217-221 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | A male neonate with tricho-rhino-phalangeal syndrome type II (Langer-Giedion syndrome) and interstitial deletion of chromosome 8 with karyotype 46, XY, del (8) (q24.11→q24.13) is reported. In addition to hypotrichosis of the scalp hair, abnormally bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type congenital nephrotic syndrome were also present. He died of renal failure and respiratory failure at 11 days of age. Electron microscopy of renal necropsy showed foot process loss, focal thickening and splitting of the glomerular basement membrane and mesangial expansion. These have never been reported and could be new associations in this disease that may serve to support the concept of contiguous gene syndrome in patients with tricho-rhino-phalangeal syndrome. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031003141&partnerID=40&md5=5c5d8c86b4506df5000cd1bc4859c793 https://scholars.lib.ntu.edu.tw/handle/123456789/524972 |
ISSN: | 0929-6646 | SDG/關鍵字: | adult; article; case report; congenital nephrotic syndrome; electron microscopy; female; human; human tissue; kidney failure; male; newborn; ultrastructure; Epiglottis; Humans; Infant, Newborn; Langer-Giedion Syndrome; Male; Nephrotic Syndrome |
顯示於: | 醫學系 |
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