Monozygotic twins with incompletely concordant simple congenital ptosis in a 4-generation pedigree.
This case reports 4-year-old monozygotic twins incompletely concordant for simple congenital ptosis. Pedigree analysis demonstrates 4 generations of autosomal dominant transmission. The case and pedigree are reviewed in light of a number of recent advances in the understanding of genetic influences on simple congenital ptosis.
Stackhouse
J Russell
JR
Department of Ophthalmology, Kittner Eye Center, University of North Carolina, Chapel Hill, North Carolina 17599-7040, USA.
Escaravage
George K
GK
Dutton
Jonathan J
JJ
D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D009801:Oculomotor Muscles / Q000601:surgery; D013508:Ophthalmologic Surgical Procedures; D010375:Pedigree; D014430:Twins, Monozygotic