Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma.
We report on a 33 year old woman with Rothmund-Thompson syndrome, Klippel-Feil syndrome and osteosarcoma. We briefly discuss the relationship of these diseases and suggest that the cause for mental retardation is cerebral atrophy as shown on imaging.
Gelaw
Bethlehem
B
Temple University Hospital System, Philadelphia, PA, USA. gelawb@yahoo.com
Ali
Said
S
Becker
Joseph
J
D000328:Adult; D001284:Atrophy; D001859:Bone Neoplasms / Q000150:complications*; D001921:Brain / Q000473:pathology; D005260:Female; D005269:Femur / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007714:Klippel-Feil Syndrome / Q000150:complications*; D012516:Osteosarcoma / Q000150:complications*; D011038:Rothmund-Thomson Syndrome / Q000150:complications*