Синдром Рубінштейна-Тейбі в неонатальній практиці (випадок із практики)

Abstract

The article presents data on a rare genetic disease - Rubinstein-Taybi syndrome. The disease incidence is 1: 25000-1: 30000. Parents’ lifestyle has no influence on the birth of a child with Rubinstein-Taybi syndrome. The risk of having a second child with the same pathology is 0.1%. The syndrome is characterized by the presence of deformed digits, distinctive facial features and mental retardation. Clinical signs of the disease occur as a result of mutation in the gene encoding a specific GreB protein. This gene is localized on the chromosome 16. The article reports on the main phenotypic deviations and analyzes the literature data on somatic and neurological pathologies. The syndrome is characterized by a combination of delayed physical and psychomotor development, progressive intellectual disability, characteristic craniofacial dysmorphism, deformity of digits (namely broad, short and wide distal phalanges of the thumbs and big toes, sometimes distal phalanges of other fingers and toes), abnormalities of the cardiovascular, respiratory and urogenital systems. The article presents primary data on the diagnosis of Rubinstein-Taybi syndrome in a child of neonatal age. The boy’s parents, young people, and the newborn’s sister, aged 3, are healthy. No phenotypic manifestations of skeletal dysplasia were detected. The relatives’ hereditary history is negative. We have observed the following facial dysmorphia: low forehead, low hair growth line, high-arched eyebrows, moon-shaped face, hypertelorism, downward slanted eyes, «beaked» nose, hypoplastic nasal wings, moderate retrognathia, high narrow palate, dysplastic, small, low-lying auricles. Broad terminal phalanges of thumbs and big toes, as well as valgus deformity of the thumbs were observed. The child was diagnosed with an open aortic duct and congenital choanal atresia on the right. Thus, a severe disabling pathology in a child born to apparently healthy parents indicates a sporadic de novo mutation. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors. Key words: Rubinstein-Taybi syndrome, craniofacial abnormalities, digit abnormalities, newborns.