| Autor: |
G Z, Liubkina, G S, Marincheva, E V, Ustinova, T K, Beliakova, N S, Stonova |
| Rok vydání: |
1976 |
| Předmět: |
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| Zdroj: |
Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952). 76(10) |
| ISSN: |
0044-4588 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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