title: Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.
abstract: We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who survived had hypoplastic teeth. Both of the male patients had cryptorchidism. These four children have a distinctive syndrome which is similar to that reported by Biesecker (J Med Genet (1991) 28: 131-134).
authors.affiliation: Regional Genetics Service, St Mary's Hospital, Manchester, UK.
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D016569:Blepharophimosis / Q000503:physiopathology*; D003744:Dental Enamel Hypoplasia / Q000503:physiopathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology*; D008297:Male; D009123:Muscle Hypotonia / Q000503:physiopathology*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000503:physiopathology*