Hepatic involvement in the Bardet-Biedl syndrome

Authors

  • Dr. Roberta A. Pagon,

    Corresponding author
    1. Departments of Pediatrics, Pathology and Ophthalmology, University of Washington and Children's Orthopedic Hospital and Medical Center, Seattle
    • Division of Medical Genetics, Children's Orthopedic Hospital and Medical Center, P.O. Box C-5371, Seattle, WA 98105
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  • Joel E. Haas,

    1. Departments of Pediatrics, Pathology and Ophthalmology, University of Washington and Children's Orthopedic Hospital and Medical Center, Seattle
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  • Ann H. Bunt,

    1. Departments of Pediatrics, Pathology and Ophthalmology, University of Washington and Children's Orthopedic Hospital and Medical Center, Seattle
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  • Keith A. Rodaway,

    1. Departments of Pediatrics, Pathology and Ophthalmology, University of Washington and Children's Orthopedic Hospital and Medical Center, Seattle
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  • John M. Opitz

    EditorSearch for more papers by this author

Abstract

A 12-year-old boy with the Bardet-Biedl syndrome (retinal dystrophy, polydactyly, mental retardation, and mild obesity) died of renal failure and was found to have hepatic fibrosis. Nephropathy and hepatic fibrosis in the Bardet-Biedl syndrome suggest pathogenetic similarity of autosomal recessive disorders in which retinal dystrophy, hepatic fibrosis, and a nephronophthisis-like disorder are associated.

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