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Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies

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Abstract

A 12-year-old girl with a syndrome of short stature, mental retardation and multiple, distinctive skeletal anomalies such as craniosynostosis, hamate-capitate fusion, first rib gaps, Klippel-Feil anomaly and Scheuerman-like kyphosis is reported.

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Authors and Affiliations

  1. Department of Radiology, Royal Alexandra Hospital for Children, Camperdown 2050, Sydney, NSW, Australia

    K. Kozlowski

  2. Department of Genetics, Royal Alexandra Hospital for Children, Sydney, Australia

    D. Sillence

  3. Department of Orthopaedic Surgery, Royal Alexandra Hospital for Children, Sydney, Australia

    F. Taylor

Authors
  1. K. Kozlowski
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  2. D. Sillence
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  3. F. Taylor
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Kozlowski, K., Sillence, D. & Taylor, F. Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. Pediatr Radiol 23, 442–445 (1993). https://doi.org/10.1007/BF02012444

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  • DOI: https://doi.org/10.1007/BF02012444

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