Yunis–Varon syndrome: Further delineation of the phenotype

Authors

  • Lina Basel-Vanagaite,

    Corresponding author
    1. Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    • Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.
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  • Liora Kornreich,

    1. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Imaging Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
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  • Ofer Schiller,

    1. Pediatric Intensive Care Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
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  • Joanne Yacobovich,

    1. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Pediatric Hematology-Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
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  • Paul Merlob

    1. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
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  • How to cite this article: Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P. 2008. Yunis–Varon syndrome: Further delineation of the phenotype. Am J Med Genet Part A 146A:532–537.

Abstract

Yunis–Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings, including hydrops fetalis, primary pulmonary hypertension and unusually severe abnormalities of toes. We review clinical data on 22 published cases in order to delineate the phenotype of this condition. Clinical recommendations for prenatal and postnatal evaluation of patients and fetuses at risk are discussed. © 2008 Wiley-Liss, Inc.

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