Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities

Authors

  • Christopher Cunniff,

    Corresponding author
    1. Section of Medical and Molecular Genetics, Department of Pediatrics, The University of Arizona College of Medicine and Steele Memorial Children's Research Center, Tucson, Arizona
    • Section of Medical and Molecular Genetics, Department of Pediatrics, PO Box 245073, 1501 N. Campbell Avenue, Tucson, AZ 85724. E-mail: ccunniff@peds.arizona.edu
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  • Mary Curtis,

    1. Section of Genetics, Department of Pediatrics, Arkansas Children's Hospital, Little Rock, Arkansas
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  • Susan J. Hassed,

    1. Section of Genetics, Department of Pediatrics, Arkansas Children's Hospital, Little Rock, Arkansas
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  • H. Eugene Hoyme

    1. Section of Medical and Molecular Genetics, Department of Pediatrics, The University of Arizona College of Medicine and Steele Memorial Children's Research Center, Tucson, Arizona
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Abstract

We report on 22 individuals referred for genetic evaluation because of blepharophimosis. Fourteen of these patients had the blepharophimosis syndrome: 5 familial and 9 sporadic. Mental retardation or developmental delay was seen in 8 of the 12 children in whom this could be assessed. Eight of 22 children had a malformation syndrome other than the blepharophimosis syndrome. All 8 of these children were mentally retarded or developmentally delayed. Two of these 8 had recognized disorders (branchio-oto-renal syndrome and a ring 4 chromosome); the remaining 6 had unrecognized malformation syndromes. Based on this information, it is suggested that children with blepharophimosis be evaluated carefully for underlying conditions and that they be observed for developmental disabilities because of the frequent association. Am. J. Med. Genet. 75:52–54, 1998. © 1998 Wiley-Liss, Inc.

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