Perlman syndrome: Report, prenatal findings and review

Authors

  • Jean-Luc Alessandri,

    Corresponding author
    1. Centre de Diagnostic Prénatal, Service de Réanimation Néonatale et Pédiatrique, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
    • CHR Félix Guyon, Réanimation Néonatale et Pédiatrique, 97400, Saint-Denis (Réunion), France.
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  • Fabrice Cuillier,

    1. Centre de Diagnostic Prénatal, Service de Gynécologie-Obstétrique, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
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  • Duksha Ramful,

    1. Service de Réanimation Néonatale et Pédiatrique, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
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  • Sandrine Ernould,

    1. Service de Réanimation Néonatale et Pédiatrique, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
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  • Stéphanie Robin,

    1. Service de Pédiatrie, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
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  • Stefan de Napoli-Cocci,

    1. Service de Chirurgie Infantile, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
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  • Jean-Pierre Rivière,

    1. Service de Cytologie et d'Anatomie Pathologique, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France
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  • Sylvie Rossignol

    1. Laboratoire d'Explorations Fonctionnelles Endocriniennes et Unité Inserm U515, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Université Pierre et Marie Curie-Paris 6, France
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  • How to cite this article: Alessandri J-L, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière J-P, Rossignol S. 2008. Perlman syndrome: Report, prenatal findings and review. Am J Med Genet Part A 146A:2532–2537.

Abstract

Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephro-blastomatosis, and predisposition to Wilms tumor (WT). We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. The clinical course was marked by neonatal distress, renal failure and refractory hypoxemia leading to death at 2 days of life. Renal histologic examination showed bilateral nephroblastomatosis. Genetic or epigenetic alterations of the 11p15 region (involved in the BWS), including mutation of the CDKN1C gene were excluded. No mutation of the GPC3 gene was identified. We review the 28 patients who have been reported with Perlman syndrome. The prognosis of Perlman syndrome is poor with a high neonatal mortality rate. Among the infants who survived beyond the neonatal period, 64% developed a WT and all had a developmental delay. Fetal macrosomia, ascites and polyhydramnios are frequent manifestations. Clinical overlaps with other overgrowth syndromes particularly Beckwith-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome have been emphasized. Perlman syndrome is considered as an autosomal recessive condition. We review 19 patients from seven sibships with parental consanguinity in two families only. The other cases were sporadic. The 28 reported patients had only 10 unaffected sibs. The low percentage of consanguinity among parents is also puzzling for a rare recessive condition. The molecular basis of Perlman syndrome is unknown. (Epi)genetic anomalies of 11p15 and mutations in GPC3 were not studied in most of the previous reports. © 2008 Wiley-Liss, Inc.

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