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Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities by Cunniff, Christopher; Curtis, Mary; Hassed, Susan J.; Hoyme, H. Eugene is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities about?

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 (branchiooto-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.

Who reads Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities?

Author

Cunniff, Christopher; Curtis, Mary; Hassed, Susan J.; Hoyme, H. Eugene

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1998

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)