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Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations
Author(s) -
Hanssen A. M. N.,
Werquin H.,
Suys E.,
Fryns J. P.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03901.x
Subject(s) - macrocephaly , psychomotor learning , medicine , pediatrics , cowden syndrome , genetics , psychiatry , biology , germline mutation , mutation , cognition , gene
Hanssen AMN, Werquin H, Suys E, Fryns JP. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet 1993: 44: 281–286. © Munksgaard, 1993 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.