Tuesday, October 7, 2008

Williams Beuren Syndrome

Williams Beuren Syndrome: Chr 7q

Mentally retarded Elf
Happy and sociable to strangers
Love music
Negative outbursts
Violent outburts
Left handedness, left eye deviation
Hyperacusis, phonophobia
spatial relationship problems

Supravalvular aortic stenosis and supravalvular pulmonary stenosis *SVAS, SVPS
Transient hypercalcaemia

Notes:
Mentally retarded and lacking social interests: autism (poor social/communication skills + obsessive repetitive behaviours)
Mentally retarded and highly verbal and social: William Beuren syndrome