A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

Abstract

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.

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

“…SNP‐array results revealed an extremely high rate of ROH (25%) suggesting a close biological relationship between parents. A large amount of ROH significantly increases the risk for autosomal recessive disorders (including two different autosomal recessive conditions), infant mortality and severe anomalies (Bennett et al, ; duSouich, Austin, Friedlander, & Boerkoel, ; Harper, ; Nwosu & Bharti, ; Zlotogora, ). Autosomal recessive neural tube defects and hydrocephalus have been suggested to be common among Palestinian Muslim Arabs (Zlotogora, , ) and holoprosencephaly with microcephaly has also been reported in offspring of consanguineous families (Kakar et al, ; Kumar, Girimaji, Duvvari, & Blanton, ).…”