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A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders
Author(s) -
du Souich Christèle,
Austin Jehannine C.,
Friedlander Robin,
Boerkoel Cornelius F.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32709
Subject(s) - psychiatric disease , psychiatry , disease , medicine , mental illness , psychology , pathology , mental health
Psychiatric disease occurs with increased frequency in a number of malformation syndromes. We hypothesize that the study of these disorders is helpful for understanding the pathophysiology of psychiatric disease. With this objective, we have been screening for individuals with malformations and prominent psychiatric disease. We report on a man with visual and auditory hallucinations and behavioral problems who was the product of an incestuous relationship and had anomalies primarily of his face, hands and feet. His distinctive features define an undescribed acro‐auricular malformation syndrome with a psychiatric component. The study of Mendelian syndromes such as the one presented will likely be helpful for isolating novel genes involved in psychiatric illness. © 2009 Wiley‐Liss, Inc.