https://scholars.lib.ntu.edu.tw/handle/123456789/194725
標題: | Clinical Variability in Neonatal Progeroid Syndrome | 作者: | HOU, JIA-WOEI WANG, TSO-REN |
公開日期: | 1995 | 卷: | v.58 | 期: | n.2 | 起(迄)頁: | 195-196 | 來源出版物: | AMERICAN JOURNAL OF MEDICAL GENETICS | 摘要: | The neonatal progeroid syndrome (NPS) was characterized by Wiedemann. NPS differs from the well-known Hutchinson- Gilford progeria, which is not apparent at birth. We report on a Chinese infant girl with a progeroid appearance, multiple anomalies, and severe growth retardation since birth. Thus, our patient has the phenotype of Wiedemann- Reutenstrauch syndrome without intrauterine growth retardation (IUGR ), but with laryngomalacia, camptodactyly, and recurrent skin infection. Our patient brings further evidence of autosomal-recessive inheritance and suggests clinical variability.#1914# |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/90508 |
顯示於: | 醫學系 |
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