A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè–Tsukahara syndrome?

Authors

  • Yimin Zhu,

    Corresponding author
    1. The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China
    2. Department of Emergency, Hunan Children's Hospital, University of South China, Changsha, China
    • The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Ziyuan Road, 86, Changsha 410011, China.
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  • Ke Jin,

    1. Department of Radiology, Hunan Children's Hospital, University of South China, Changsha, China
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  • Haibo Mei,

    1. Department of Osteology, Hunan Children's Hospital, University of South China, Changsha, China
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  • Liping Li,

    1. The Laboratory of Basic Medicine, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China
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  • Zheng Liu,

    1. School of Biology, Georgia Institute of Technology, Atlanta, Georgia
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  • Yongjia Yang,

    Corresponding author
    1. The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China
    • The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Ziyuan Road, 86, Changsha 410011, China.
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  • Jingsong Tang,

    1. Institute of Mental Health, The Second Xiangya Hospital, Central South University, Chang, China
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  • Xielin He,

    1. The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China
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  • Rui Zhao,

    1. The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China
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  • Xinyu He

    1. The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China
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  • How to Cite this Article: Zhu Y, Jin K, Mei H, Li L, Liu Z, Yang Y, Tang J, He X, Zhao R, He X. 2012. A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè–Tsukahara syndrome? Am J Med Genet Part A. 158A:2036–2042.

Abstract

We report on a three-generation Chinese family presenting with a recognizable condition consisting of radio-ulnar synostosis, short stature, scoliosis, distinctive craniofacial features (thick vermilion to the lips, prominent eyes, and flat malar region), and a shortened and thickened femur neck. The inheritance of the trait was presumably autosomal dominant. The lack of microcephaly in the family suggested a variant of Giuffè–Tsukahara syndrome but could represent variability © 2012 Wiley Periodicals, Inc.

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