[Clinical features of one of the syndromes associated with oligophrenia--the so-called "elf face"].
The authors give a clinical description of 19 patients from 2 years and 10 months-18 years with "elf face" syndrome. The most prominent traits of the disease were a specific look of the face, congenital heart insufficiency, muscular hypotonia, inguinal hernia. The mental state was characterized by an expressed mental retardation with some special traits: relatively well developed speech, talkativeness, good-naturedness, an euphoric mood, inactivity and poor motor functioning. In 3 patients who were older a psychopath-like syndrome was found. A study of the kariotype in 5 cases depicted hetermorphism of homologues in some pairs of chromosomes in more than 10% of the cells as well as an increased amount of structural reconstructions. Indirect calculation have shown that the incidence of the syndrome is approximately equal to 1:25000 births which is significantly more than cited in literature.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002875:Chromosomes; D005145:Face; D005260:Female; D006801:Humans; D006934:Hypercalcemia; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D010551:Personality; D013577:Syndrome
Klinicheskie osobennosti odnogo iz sindromov, sochetaiushchikhsia s oligofrenieĭ,--tak nazyvaemogo sindroma "litsa él'fa"