title: Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.
abstract: We report Cowden syndrome in a large four-generation family, paying special attention to the apparently greater severity and earlier onset of signs and symptoms in subsequent generations. Macrocephaly was present in all affected individuals and was markedly progressive in three of six affected children of the fourth generation, and associated with slight to moderate delay in psychomotor development.
authors.affiliation: Department of Clinical Genetics, Academic Hospital Maastricht, Belgium.
authors.forename: A M
authors.initials: AM
authors.lastname: Hanssen
authors.forename: H
authors.initials: H
authors.lastname: Werquin
authors.forename: E
authors.initials: E
authors.lastname: Suys
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D010375:Pedigree; D011597:Psychomotor Performance; D012886:Skull / Q000002:abnormalities*