The Ohdo blepharophimosis syndrome: a third case.
A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.
Biesecker
L G
LG
Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor 48109-0718.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D007593:Joint Instability / Q000151:congenital; D008297:Male; D008831:Microcephaly; D008865:Microstomia; D013577:Syndrome; D014071:Tooth Abnormalities