Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities
Article first published online: 6 DEC 1998
Copyright © 1998 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 75, Issue 1, pages 52–54, 6 January 1998
How to Cite
Cunniff, C., Curtis, M., Hassed, S. J. and Hoyme, H. E. (1998), Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities. Am. J. Med. Genet., 75: 52–54. doi: 10.1002/(SICI)1096-8628(19980106)75:1<52::AID-AJMG11>3.0.CO;2-R
- Issue published online: 6 DEC 1998
- Article first published online: 6 DEC 1998
- Manuscript Accepted: 29 JUL 1997
- Manuscript Received: 31 MAR 1997
- blepharophimosis syndrome;
- mental retardation;
- developmental delay
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.