Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

American Journal of Medical Genetics

Volumn 99, Issue 2, 2001, Pages 132-136

  Faivre, L ^a,b   Nivelon Chevallier, A ^a   Kottler, M L ^c   Robinet, C ^a   Khau Van Kien, P ^a   Lorcerie, B ^d   Munnich, A ^b   Maroteaux, P ^b   Cormier Daire, V ^b   Lemerrer, M ^b  

^a Medical University of Dijon   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HÔPITAL DU BOCAGE   (France)

Author keywords

Fibrous dysplasia of bones; GNAS1 gene; Intramuscular myxomas; Mazabraud syndrome; McCune Albright syndrome

Indexed keywords

ADULT; ALBRIGHT SYNDROME; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FEMALE; FIBROUS DYSPLASIA; GENETIC ANALYSIS; GOITER; HUMAN; LEUKOCYTE; MALE; MAZABRAUD SYNDROME; MUSCLE TUMOR; MYXOMA; ONSET AGE; PRIORITY JOURNAL; SKIN FIBROBLAST; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MUSCLE NEOPLASMS; MYXOMA; SYNDROME;

EID: 0035281925     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2000)9999:999<00::AID-AJMG1135>3.0.CO;2-A     Document Type: Article

References (32)

1. Intramuscular myxoma with fibrous dysplasia: A report of two cases with a review of the literature
2. The Mazabraud syndrome: Case report and review of the literature
3. Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia
4. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome
5. A new constitutively activating mutation of the Gs protein alpha subunit-gsp oncogene is found in human pituitary tumors
6. Gs alpha mutation at codon 201 in pituitary adenoma causing gigantism in a 6-year-old boy with McCune Albright syndrome
7. Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stroma Leydig cell tumors
8. Zur osteofibrosis deformans juvenilis
9. Fall von ostitis fibrosa mit multiplen tumoren in der umgebenden muskulatur
10. Intramuscular myxoma
11. Myxoma of somatic soft tissues: A report of 58 patients, 3 with multiple tumors and fibrous dysplasia of bone
12. Isolation and characterization of the human Gsα gene
13. GTPase inhibiting mutations activate the alpha chain of G(s) and stimulate adenyl cyclase in human pituitary tumors
14. Le syndrome d'Albright
15. McCune-Albright syndrome. Long-term follow-up
16. Albright's syndrome associated with a soft tissue myxoma and hypophosphatemic osteomalacia: Report of a case and a review of the literature
17. Recurrent intramuscular myxoma associated with Albright's syndrome: Case report and review of the literature
18. An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion
19. Un cas particulier de dysplasie fibreuse ȧ localisations osseuses et tendineuses
20. A propos de l'association de fibromyxomes des tissus mous ȧ la dysplasie fibreuse des os
21. Soft-tissue myxomas and fibrous dysplasia of bone. A case report and review of the literature
22. Fibrous dysplasia of bone. A review of 25 cases
23. Dysplasie fibreuse des os et myxomes des tissue mous. Dégénėrescence sarcomateuse localisée
24. Identification of a mutation in the gene encoding the a subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
25. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS
26. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
27. sα gene
28. Gsp mutations in human thyroid tumors
29. Fibrous dysplasia associated with intramuscular myxoma (Mazabraud's syndrome): A long-term follow-up of three cases
30. McCune-Albright syndrome: Clinical and molecular evidence of mosaicism in an unusual giant patient
31. Activating mutations of the stimulatory G protein in the MeCune-Albright syndrome
32. Multiple intramuscular myxomas: Another extraskeletal manifestation of fibrous dysplasia