Marden-Walker syndrome in an adult.
We report on a 23-year-old male with growth retardation, blepharophimosis, congenital contractures, minor anomalies of the face, and severe mental retardation. This patient is the second adult reported with the Marden-Walker syndrome. Blepharophimosis, contractures, growth retardation, and developmental delay persisted whereas minor anomalies of the face were less noticeable as the patient grew older. Behaviour changed from kindness in childhood to restlessness, hyperactivity and aggressiveness in adolescence.
Kotzot
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D
Institute of Medical Genetics, University of Zürich, Switzerland.
Schinzel
A
A
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D016569:Blepharophimosis / Q000473:pathology*; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D013577:Syndrome