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Abstract
Russia’s first description of the congenital heart defects and skeletal malformations syndrome (CHDSKM, https://www.omim.org/entry/617602) is presented. The disease is inherited in an autosomal dominant type and is caused by missense variants in the ABL1 gene in most cases, which is a proto-oncogene, which in its turn is encoding the cytoplasmic and nuclear protein tyrosine kinase. The data on the clinical manifestations of the syndrome is under accumulation as yet with only 19 clinical cases described in scientific sources that are forming a spectrum of frequently encountered symptoms. The description of the case facilitates to the accumulation of clinical diversity of symptoms of the disease contributing to its spectrum expansion and confirming the multisystemic nature of the disease’s clinical manifestations.
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