The Marden-Walker syndrome: a case report and review of the literature.
A case of Marden-Walker syndrome with its typical facies, blepharophimosis, congenital joint contractures, mental handicap and other anomalies is reported in a 29-year-old female and the literature reviewed. There is a history of mental handicap on the paternal side and cancer on the maternal side of the family tree.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics; D003286:Contracture / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D013577:Syndrome