|Title:||Clinical Variability in Neonatal Progeroid Syndrome||Authors:||HOU, JIA-WOEI
|Issue Date:||1995||Journal Volume:||v.58||Journal Issue:||n.2||Start page/Pages:||195-196||Source:||AMERICAN JOURNAL OF MEDICAL GENETICS||Abstract:||
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#
|Appears in Collections:||醫學系|
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