A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects

Authors

  • Silvana C. Santos,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
    2. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Eliete Pardono,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Maria Ione Ferreira da Costa,

    1. Secretaria de Saúde Pública, Natal, Rio Grande do Norte, Brazil
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  • Aurea Nogueira de Melo,

    1. Centro de Ciências da Saúde, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
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  • Zodja Graciani,

    1. Departamento de Neurologia e Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil
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  • Alessandra Cavalcanti de Albuquerque e Souza,

    1. Centro de Reabilitação Infantil, Natal, Rio Grande do Norte, Brazil
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  • Karina Lezirovitz,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Renata Soares Thiele-Aguiar,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Regina Célia Mingroni-Netto,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • John M. Opitz,

    1. Pediatrics (Division of Medical Genetics), Human Genetics, Pathology, Obstetrics and Gynecology, University of Utah Health Sciences Center, Salt Lake City, Utah
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  • Fernando Kok,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
    2. Departamento de Neurologia e Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil
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  • Paulo A. Otto

    Corresponding author
    1. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
    • Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, P. O. Box 11461, 05422-970 São Paulo, SP, Brazil.
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  • How to cite this article: Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. 2008. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia and other defects. Am J Med Genet Part A 146A:3126–3131.

Abstract

We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia. © 2008 Wiley-Liss, Inc.

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