A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders.
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.
du Souich
Christèle
C
Provincial Medical Genetics Programme, Department of Medical Genetics, University of British Columbia, Vancouver, Canada. cdusouich@cw.bc.ca
Austin
Jehannine C
JC
Friedlander
Robin
R
Boerkoel
Cornelius F
CF
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000523:psychology*; D000293:Adolescent; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006212:Hallucinations / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006801:Humans; D007179:Incest; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome