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Urofacial Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Urofacial syndrome (UFS), also known as Ochoa syndrome, is characterized by severe voiding dysfunction and peculiar facies, i.e., inversion of facial expression with grimacing while smiling (Ochoa and Gorlin 1987; Ochoa 1992, 2004). UFS may be more common than was previously thought, and it is likely that cases are missed because of failure to recognize the characteristic grimacing (Garcia-Minaur et al. 2001).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Urofacial Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_241

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_241

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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