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    Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/10943


    Title: Denovo 4p-syndrome with oligohydramnios sequence
    Authors: Su, Pen-Hua
    Kuo, Pao-Lin
    Chen, She-Jen
    Hung, uei-Mei
    Hi, Tzong-Huang
    Chen, Jia-Yuh
    Contributors: 中山醫學大學
    Keywords: case report;chromosome deletion;cytogenetic analysis;infant;oligohydramnios
    Date: 2003
    Issue Date: 2015-06-30T08:08:17Z (UTC)
    Abstract: 4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p16.3 and involves multiple malformations that results in delayed growth and development and also facial dysmorphism. We report a case of Wolf-Hirschhorn syndrome in a female infant with a 4p deletion, for which the breakpoint was detected at p14. This patient had bilateral renal hypoplasia resulting from the oligohydramnios sequence (Potter syndrome), including characteristic facial abnormalities, deformed limbs, and pulmonary hypoplasia. Patent ductus arteriosus, ascites, and bilateral renal hypoplasia were noted. The patient had frequent pulmonary infections and died when she was 39 days old.
    URI: https://ir.csmu.edu.tw:8080/ir/handle/310902500/10943
    Relation: Journal of the Formosan Medical Association, Vol.102, No.9, pp.647-649
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