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| Verfasst von: | Schilke, Kathrin [VerfasserIn]  |
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| | Schaefer, Franz [VerfasserIn] |
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| | Waldherr, Rüdiger [VerfasserIn] |
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| | Rohrschneider, Wiltrud [VerfasserIn] |
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| | John, Christoph [VerfasserIn] |
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| | Himbert, Urban [VerfasserIn] |
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| | Mayatepek, Ertan [VerfasserIn] |
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| | Tariverdian, Gholamali [VerfasserIn] |
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| Titel: | A case of Perlman syndrome |
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| Titelzusatz: | fetal gigantism, renal dysplasia, and severe neurological deficits |
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| Verf.angabe: | Kathrin Schilke, Franz Schaefer, Rüdiger Waldherr, Wiltrud Rohrschneider, Christoph John, Urban Himbert, Ertan Mayatepek, and Gholamali Tariverdian |
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| E-Jahr: | 2000 |
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| Jahr: | 17 March 2000 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 08.12.2020 |
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| Titel Quelle: | Enthalten in: American journal of medical genetics |
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| Ort Quelle: | Hoboken, NJ : Wiley-Liss, 1977 |
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| Jahr Quelle: | 2000 |
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| Band/Heft Quelle: | 91(2000), 1, Seite 29-33 |
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| ISSN Quelle: | 1096-8628 |
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| Abstract: | We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. Magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy. Am. J. Med. Genet. 91:29-33, 2000. © 2000 Wiley-Liss, Inc. |
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| DOI: | doi:10.1002/(SICI)1096-8628(20000306)91:1<29::AID-AJMG5>3.0.CO;2-U |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/https://doi.org/10.1002/(SICI)1096-8628(20000306)91:1<29::AID-AJMG5>3.0.CO;2-U |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291096-8628%2820000306%2991%3A1%3C29%3A%3AAID-AJMG5%3E3.0.CO%3B2 ... |
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| | DOI: https://doi.org/10.1002/(SICI)1096-8628(20000306)91:1<29::AID-AJMG5>3.0.CO;2-U |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | cerebral atrophy |
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| | fetal overgrowth |
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| | nephroblastomatosis |
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| | nephrogenic rest |
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| | visceromegaly |
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| K10plus-PPN: | 1742262511 |
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| Verknüpfungen: | → Zeitschrift |
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¬A¬ case of Perlman syndrome / Schilke, Kathrin [VerfasserIn]; 17 March 2000 (Online-Ressource)
