• Peculiarities of pneumonia in a child with Cornelia de Langue syndrome (a case report)

Peculiarities of pneumonia in a child with Cornelia de Langue syndrome (a case report)

SOVREMENNAYA PEDIATRIYA.2017.8(88):100-105; doi 10.15574/SP.2017.88.100

Gonchar M. A., Muratov G. R., Omelchenko E. V., Galdinа I. M., Dolgareva S. B., Khomovskaya A. A., Kovalenko S. A.
Kharkiv National Medical University, Kharkiv, Ukraine
Communal Health Care Institution «Regional Children's Clinical Hospital», Kharkiv, Ukraine

Cornelia de Lange syndrome is a genetically determined disease characterized by multiple malformations, phenotypic features, physical and neuropsychological developmental lag and decreased immunity. The syndrome belongs to the group of orphan diseases. Incidence of disease varies from 1:10,000 to 1:200,000 of newborns, sex ratio 1:1. The prognosis for this disease depends on the degree of internal organ abnormalities. With multiple intra-organ defects, children die in infacy. When the lesions of internal organs are not so pronounced, and the duration of life is increasing, the secondary infectious diseases can lead to organ dysfunction and increase the likelihood of lethal outcome. The article describes our own experience with the analysis of the clinical features of the pneumonia course in a child with Cornelia de Lange syndrome.
Key words: Cornelia de Lange syndrome, case report, children, multiple malformations, pneumonia.

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