Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

Authors

  • Vered Shkalim,

    Corresponding author
    1. Neurogenetic Clinic and Child Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    • Schneider Children's Medical Center, Neurogenetic Clinic and Child Neurology Unit, Kaplan Street No. 14, Petah Tikva 49202, Israel.
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  • Liat Ben-Sira,

    1. Department of Radiology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Dov Inbar,

    1. Child Development and Rehabilitation Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Walid Kaadan,

    1. Neurogenetic Clinic and Child Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Lina Basel-Vanagaite,

    1. Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Rachel Straussberg

    1. Neurogenetic Clinic and Child Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • How to Cite this Article: Shkalim V, Ben-Sira L, Inbar D, Kaadan W, Basel-Vanagaite L, Straussberg R. 2011. Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome? Am J Med Genet Part A 155:1060–1065.

Abstract

Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition. © 2011 Wiley-Liss, Inc.

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