Article (Scientific journals)
A Case of Osteosarcoma in a Patient With Pycnodysostosis
Cortisse, Natasha; FORGET, Patricia; DRESSE, Marie-Françoise et al.
2012In American Journal of Pediatric Hematology/Oncology, 34, p. 545-47
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Keywords :
pediatric oncology; pycnodysostosis; oteosarcoma
Abstract :
[en] Pycnodysostosis is a rare sclerosing bone dystrophy. The main clinical features are short stature and oral and maxillofacial abnormalities such as a large head, a small and underdeveloped face with prominent nose and eyes, irregular dentition, small hands and feet with dystrophic nails, and trunk deformities such as scoliosis. The differential diagnosis is established with other skeletal dysplasias such as osteopetrosis, cleidocranial dysplasia, and idiopathic acroosteolysis. Since its first description in 1962 by Maroteaux and Lamy, about 100 cases have been published, some of these with uncommon features. We describe the case of a 22-year-old European man with pycnodysostosis who developed a chondroblastic osteosarcoma of the right femur. No case of bone cancer in this sclerosing bone disease had been described so far.
Disciplines :
Pediatrics
Author, co-author :
Cortisse, Natasha
FORGET, Patricia ;  Centre Hospitalier Universitaire de Liège - CHU > Service de pédiatrie (CHR)
DRESSE, Marie-Françoise ;  Centre Hospitalier Universitaire de Liège - CHU > Service de pédiatrie (CHR)
Florkin, Benoit
Mascard, Eric
Guinebretière, Jean
Brugières, Laurence
Hoyoux, Claire ;  Université de Liège > Département des sciences cliniques > Département des sciences cliniques
Language :
English
Title :
A Case of Osteosarcoma in a Patient With Pycnodysostosis
Publication date :
2012
Journal title :
American Journal of Pediatric Hematology/Oncology
ISSN :
0192-8562
Publisher :
Raven Press, New York, United States - New York
Volume :
34
Pages :
545-47
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 27 May 2016

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