Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
The Ohdo syndrome is characterized by blepharophimosis, ptosis, abnormal ears, and mental retardation. This report describes a child with the Ohdo syndrome who, in addition, has microcephaly and growth retardation. Her phenotype probably represents variable expression or genetic heterogeneity of the Ohdo syndrome.
Melnyk
A R
AR
Department of Pediatrics, Loyola University of Chicago Stricht School of Medicine, Maywood, IL 60153.
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D016569:Blepharophimosis / Q000503:physiopathology*; D001763:Blepharoptosis / Q000503:physiopathology*; D002658:Developmental Disabilities / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000503:physiopathology*; D008831:Microcephaly / Q000503:physiopathology; D013577:Syndrome