Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
A mentally retarded girl with congenital blepharophimosis, ptosis, abnormal teeth and other features consistent with Ohdo syndrome is reported.
Stoll
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Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
D000015:Abnormalities, Multiple / Q000235:genetics; D016569:Blepharophimosis / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome