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Three new patients with FATCO: Fibular agenesis with ectrodactyly

Authors

  • Tadeusz Bieganski,

    Corresponding author
    1. Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, Lodz, Poland
    • Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, 281/289, Rzgowska Str., 93-338 Lodz, Poland.
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  • Aleksander Jamsheer,

    1. Department of Medical Genetics, University of Medical Sciences, Poznan, Poland
    2. Center for Medical Genetics GENESIS, Poznan, Poland
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  • Anna Sowinska,

    1. Department of Medical Genetics, University of Medical Sciences, Poznan, Poland
    2. Center for Medical Genetics GENESIS, Poznan, Poland
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  • Dobromila Baranska,

    1. Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, Lodz, Poland
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  • Kryspin Niedzielski,

    1. Department of Orthopedics, Polish Mother's Memorial Hospital, Lodz, Poland
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  • Kazimierz Kozlowski,

    1. Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, Australia
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  • Malwina Czarny-Ratajczak

    Corresponding author
    1. Department of Medical Genetics, University of Medical Sciences, Poznan, Poland
    2. Department of Medicine, Tulane Center for Aging, Tulane University Health Sciences Center, New Orleans, Louisiana
    • Department of Medicine, Tulane Center for Aging, Tulane University Health Sciences Center, 1430 Tulane Ave., SL-12, New Orleans, LA 70112.
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  • How to Cite this Article: Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K, Czarny-Ratajczak M. 2012. Three new patients with FATCO: Fibular agenesis with ectrodactyly. Am J Med Genet Part A. 158A:1542–1550.

Abstract

We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype “fibular aplasia with ectrodactyly.” Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities. © 2012 Wiley Periodicals, Inc.

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