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Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis

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Author(s)

PM Cox, LA Brueton, KW Murphy, VC Worthington, Predrag Bjelogrlic, EJ Lazda, NJ Sabire, CA Sewry

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Abstract

We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia, Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated massive accumulation of diastase-resistant periodic acid-Schiff-positive material in the skeletal muscle cells and epidermal keratinocytes of all 3 fetuses, Enzyme studies of fibroblasts from the 3rd fetus showed deficient activity of glycogen brancher enzyme, indicating that this is a new, severe form of glycogenosis type TV with onset in the early second trimester, (C) 1999 Wiley-Liss, Inc.

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Details

Original languageEnglish
Pages (from-to)187-193
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume86
Issue number2
Early online date13 Aug 1999
DOIs
Publication statusPublished - 10 Sep 1999

    Research areas

  • glycogen storage disease (GSD), amyoplasia, FADS, hydrops, lethal multiple pterygium syndrome, arthrogryposis, ARTHROGRYPOSIS MULTIPLEX CONGENITA, AKINESIA DEFORMATION SEQUENCE, PRENATAL-DIAGNOSIS, PTERYGIUM SYNDROME, DISEASE, DEFICIENCY, ANOMALIES, FORMS, GENE

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