Bannayan-riley-ruvalcaba syndromeQ87.0
Synonym(s)
Bannayan-Zonana Syndrome
HistoryThis section has been translated automatically.
Riley and Smith, 1960; Bannayan, 1971; Ruvalcaba et al. 1980; Zonana et al. 1975
DefinitionThis section has been translated automatically.
Autosomal dominant hereditary macrocephaly with hemangiomas, lipomas and lymphangiomas. Rarely also intestinal polyps, postnatal macrosomia with decrease in length growth, eye changes, pigmentation anomalies(café-au-lait spots) of the skin, as well as melanotic spots in the genital area and psychomotor developmental disorders.
EtiopathogenesisThis section has been translated automatically.
Autosomal-dominantly inherited mutations of the PTEN tumor suppressor gene (PTEN=acronym for "phosphatase and tensin homologue gene"; gene locus: 10q23.31). See also Cowden syndrome and Goltz-Gorlin syndrome.
LiteratureThis section has been translated automatically.
- Bannayan GA (1971) Lipomatosis, angiomatosis, and macrencephalia: a previously undescribed congenital syndrome. Arch Path 92: 1-5
- Ruvalcaba RH, Myhre S, Smith DW (1980) Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 18: 413-416
- Merg A, Howe JR (2004) Genetic conditions associated with intestinal juvenile polyps. At J Med Genet 129: 44-55
- Riley HD Jr, Smith WR (1960) Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics 26: 293-300
- Zonana J, Davis D, Rimoin DL (1975) Multiple lipomas, hemangiomas and macrocephaly--an autosomal dominant hamartomatous syndrome. On J Hum Genet 27: 97A
- Zonana J, Rimoin DL, Davis DC (1976) Macrocephaly with multiple lipomas and hemangiomas. J Pediat 89: 600-603