A familial case of Rothmund-Thomson syndrome. A case in favor of the uniqueness of the syndrome. Association with osteosarcoma
Rebaud, P.; David, L.; Plauchu, H.; Chatelain, P.; Moulin, G.; François, R.
Pediatrie 40(6): 487-492
1985
ISSN/ISBN: 0031-4021 PMID: 3869684 Document Number: 243464
A 7 years old girl with Rothmund-Thomson syndrome is described. A detailed study of the dermatologic lesions has been performed. The parent's girl are first cousins and one of her brothers, also having the Rothmund-Thomson syndrome, died from an osteosarcoma of the tibia at the age of 11. This familial observation gives support to the uniqueness of the Rothmund-Thomson syndrome with autosomal recessive inheritance.