[A familial case of Rothmund-Thomson syndrome. A case in favor of the uniqueness of the syndrome. Association with osteosarcoma].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001859:Bone Neoplasms / Q000150:complications; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D012516:Osteosarcoma / Q000150:complications; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome
Observation familiale de syndrome de Rothmund-Thomson. Observation en faveur de l'unicité du syndrome. Association à un ostéosarcome.