Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome?

American Journal of Medical Genetics

Volumn 66, Issue 2, 1996, Pages 150-153

  Christianson, Arnold L ^a   Van Allen, Margot I ^b  

^a UNIVERSITY OF PRETORIA   (South Africa)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

cranial exostoses; craniostenosis; epibulbar dermoid; hyperostosis; Proteus syndrome; Thanos syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HYPERPIGMENTATION; LIPID STORAGE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE CANCER; PRIORITY JOURNAL; RIB MALFORMATION; SKULL SUTURE;

ADIPOSE TISSUE; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MENTAL RETARDATION; PROTEUS SYNDROME; RIBS;

EID: 0030456317     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<150::AID-AJMG5>3.0.CO;2-V     Document Type: Article

References (6)

1. Clark RD, Donnai D, Rogers J, Cooper J, Baraister M (1987): Proteus syndrome: An expanded phenotype. Am J Med Genet 27:99-118.
2. Cohen MM Jr. (1993): Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47: 645-652.
3. Gorlin RJ, Cohen MM Jr., Levin LS (1990): Syndromes of the head and neck, 3rd ED. New York: Oxford University Press, pp 403-406.
4. Kousseff BG (1992): Hypothesis: Jadassohn Nevus Phakomatosis: A paracrinopathy with variable phenotype. Am J Med Genet 43: 651-661.
5. Thanos C, Stewart RE, Zonana J (1977): Craniosynostosis, bony exostoses, epibulbar dermoids, epidermal nevus and slow development. Syndrome Identification 5:19-21.
6. Viljoen DL, Nelson MM, De Jong G, Beighton P (1987): Proteus syndrome in southern Africa: Natural history and clinical manifestations in six individuals. Am J Med Genet 27:87-97.