Inherited macrocephaly-hamartoma syndromes

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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. Am. J. Med. Genet. 79:284–290, 1998.

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