Am J Med Genet. 1998 Oct 2;79(4):284-90.

Inherited macrocephaly-hamartoma syndromes.

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Department of Pediatrics, University of Illinois College of Medicine at Peoria, Children's Hospital of Illinois at OSF Saint Francis Medical Center 61637, USA. JHD@UIC.edu

Abstract

Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and "Bannayan-Zonana" phenotypes, but almost certainly should also include the "Riley-Ruvalcaba" and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical and molecular data supporting this unification are presented along with a proposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities.

PMID:: 9781909; [PubMed - indexed for MEDLINE]

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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. [Hum Mol Genet. 1999]
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, et al. Hum Mol Genet. 1999 Aug; 8(8):1461-72.
Arteriovenous malformations in Cowden syndrome. [J Med Genet. 2005]
Arteriovenous malformations in Cowden syndrome.
Turnbull MM, Humeniuk V, Stein B, Suthers GK. J Med Genet. 2005 Aug; 42(8):e50.
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. [Thyroid. 2011]
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V. Thyroid. 2011 Feb; 21(2):135-44. Epub 2010 Dec 29.
Review The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. [Recent Prog Horm Res. 1999]
Review The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors.
Eng C. Recent Prog Horm Res. 1999; 54:441-52; discussion 453.
Review An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. [J Am Acad Dermatol. 2000]
Review An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.
Perriard J, Saurat JH, Harms M. J Am Acad Dermatol. 2000 Feb; 42(2 Pt 2):348-50.

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Cited by 2 PubMed Central articles

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. [J Med Genet. 2007]
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
Lachlan KL, Lucassen AM, Bunyan D, Temple IK. J Med Genet. 2007 Sep; 44(9):579-85. Epub 2007 May 25.
Review Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders. [Reprod Biol Endocrinol. 2003]
Review Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders.
Malinger G, Lev D, Lerman-Sagie T. Reprod Biol Endocrinol. 2003 Nov 14; 1:110. Epub 2003 Nov 14.

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