Proteus syndrome: Report of two cases;Dos casos de síndrome de Proteus

Anales de Pediatria

Volumn 58, Issue 5, 2003, Pages 496-501

  Velazquez Fragua R ^a   Pascual Castroviejo, I ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Bone fracture; Hemihypertrophy; Mental retardation; Proteus syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FRACTURE; GENETIC POLYMORPHISM; HAMARTOMA; HEMIHYPERTROPHY; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MESODERM; MOSAICISM; MULTIPLE CANCER; PRESCHOOL CHILD; PUBIC FRACTURE; SKELETON MALFORMATION;

EID: 0038511101     PISSN: 16954033     EISSN: None     Source Type: Journal    
DOI: 10.1157/13046533     Document Type: Article

References (21)

1. Bouzas EA, Krasnewich D, Kotroumanidis M, Papadimitrou A, Marini JC, Kaiser-Kupfer MI. Ophthalmologic examination in the diagnosis of Proteus syndrome. Ophthalmlogy 1993;100: 334-8.
2. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The Proteus syndrome. Eur J Pediatr 1983;140: 5-12.
3. Cohen MM Jr. Proteus Syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet 1993;47: 645-52.
4. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, et al. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84:389-95.
5. De Lone DR, Brown WD, Gentry LR. Proteus syndrome: Craniofacial and cerebral MRI. Neuroradiolgy 1994;41:840-3.
6. Zhou X-P, Hampel H, Thiele H, Gorlin RJ, Hennekam RCM, Parisi M, et al. Association of germline mutation in the PTEN tumour supressor gene and Proteus and Proteus like syndromes. Lancet 2001;358:210-1.
7. Biesecker LG, Rosenberg MJ, Vacha S, Turner JT, Cohen MM. PTEN mutations and Proteus syndrome. Lancet 2001;358:2079.
8. Martínez Granero MA, Roche Herrero MC, De Ceano-Vivas de la Calle M, Martínez-Bermejo A, Pascual-Castroviejo I, Contreras Rubio F. Síndrome de Proteus y lipomatosis encefalocraneocutánea, ¿una misma hamartomatosis? A propósito de un caso severo. An Esp Pediatr 1998;49:503-6.
9. Say B, Carpenter NJ. Report of a case resembling the Proteus syndrome with a cromosomal abnoramality. Am J Med Genet 1988;987-9.
10. Barker K, Martínez A, Wang R, Bevan S, Murday V, Shipley J, et al. PTEN mutations are uncommon in Proteus syndrome. J Med Genet 2001;38:480-1.
11. Goodship J, Redfearn A, Milligan D, Gardner-Medwin D, Burn J. Transmission of Proteus syndrome from father to son? J Med Genet 1991;28:781-5.
12. Kruger G, Pelz L, Wiedemann HR. Transmission of Proteus syndrome from mother to son? Am J Med Genet 1993;45:117-8.
13. Sigaudy S, Fredouille C, Gambarelli D, Portier A, Cassin D, Piquet C, et al. Prenatal ultrasonographic findings in Proteus syndrome. Prenat Diagn 1998;18:1091-4.
14. Griffiths PD, Welch RJ, Gardner-Medwin D, Gholkar A, McA-llister V. The radiological features of hemimegalencephaly including three cases associated with Proteus syndrome. Neuropediatrics 1994;25:140-4.
15. Meadows KP, Egan CA, Vanderhooft SL. Patological case of the month. Arch Pediatr Adolesc Med 2000;154:527-8.
16. Becktor KB, Becktor JP, Karnes PS, Keller EE. Craneofacial and dental manifestations of Proteus syndrome: A case report. Cleft Palate Craniofac J 2002;39:233-45.
17. Dietrich RB, Glidden DE, Roth GM, Martin RA, Demo DS. The Proteus syndrome: CNS manifestations. Am J Neuroradiol 1998;19:987-90.
18. Rizzo R, Pavone L, Micali G, Nigro F, Cohen MM Jr. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. Am J Med Genet 1993;47:653-5.
19. National Institutes of Health Consensus Development Conference 1988. Neurofibromatosis: Conference statement. Arch Neurol 1988;45:575-8.
20. Tibles JAR, Cohen MM. The Proteus syndrome: The elephant man diagnosed. BMJ 1986;293:683-5.
21. Cohen MM Jr. Causes of premature death in Proteus syndrome. Am J Med Genet 2001;101:1-3.