The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case.
A severely mentally handicapped Caucasian male with cataracts, deafness, distal muscle wasting and skeletal abnormalities, including calcification of the pinnae, is described. The findings in this patient strongly resemble those in a male described in 1982 by Primrose, and it suggested that this unusual pattern of abnormalities constitutes a discrete entity, which we propose should be known as 'Primrose syndrome'.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002114:Calcinosis / Q000175:diagnosis; D002386:Cataract / Q000175:diagnosis*; D004431:Ear, External; D006177:Gynecomastia / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis*; D013577:Syndrome