engleski

Delayed language development in a boy with the Ellis-van Creveld syndrome

The Ellis-van Creveld syndrome was first described in the late 1930s by W. B. Ellis and S. van Creveld after a meeting in a train compartment as they went to the same conference with papers on patients with remarkably similar symptoms. Among other signs, the patients were having narrow rib cage, mesomelic shortening of long bones, dwarfism, polydactyly and dental anomalies. They called the disease chondroectodermal dysplasia. The patients affected by this disease frequently suffer from respiratory insufficiency and cardiac anomalies and their death rate in infancy is 50%. Although the hereditary origin of the syndrome is known for a long time (EVC was spread particularly among Amish population), genetic research reveals a mutation of the gene on the 4th chromosome that is generally held responsible for the syndrome (though there are reports of another gene called EVC2 that accounts for the heterogeneity of the syndrome). Today, about 30 signs and symptoms are listed as observed in this disease. Some of them - such as adontia, oligodontia or microdontia - are bound to have impact on language and, consequently, on communicative abilities of the affected child. This paper is a case study of a child with the Ellis-van Creveld syndrome. The child was observed for a period of two years in Clinical unit of the Laboratory. The observation started as the child was 3 ; 6 years old. Language impairment and speech problems were observed together with a child's inability to establish normal communication with his surroundings. The presentation of this case study will provide the child's linguistic and psychological profile and give an account for the communicational problems that the child encounters.

Ellis-van Creveld syndrome; language development

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