Clinical expert case with a combination of the Saul–Wilson and Rubinstein–Taybi syndromes

Saul–Wilson syndrome, like Rubinstein–Taybi syndrome, is classified as a rare genetic disease according to modern classification. So, to date, there are descriptions of 16 patients from different countries in literary sources.

The Saul–Wilson syndrome is characterized by a combination of nanism, pathology of long tubular bones, the spine and the organ of vision, typical dysmorphic facial features and radiological data; Rubinstein–Taybi syndrome has various skeletal defects (low height, dilation of the phalanges of the fingers, polydactyly on the legs, deformities of the face and skull, high arched palate, changes in the shape and position of the auricles, dilated phalanges of the fingers, lordosis, kyphosis, scoliosis), strabismus, anomalies refraction, disorders of internal organs, disorders of intellectual and physical development.

The article presents a complex clinical and expert case with a combination of two genetic diseases ― Saul–Wilson and Rubinstein–Taybi syndromes, typical manifestations of which were visible craniofacial dysmorphia, changes in the musculoskeletal system in the form of progressive bilateral coxarthrosis, instability of the thoracic spine, deformities of the feet, accompanied by pronounced disorders of neuromuscular, skeletal and statodynamic functions. The multi-system lesion of the body caused difficulties for specialists during the medical and social examination. These nosological forms are absent in the current classifications and criteria for establishing disability, and therefore the quantitative assessment of persistent functional disorders was carried out individually ― according to the degree of severity of impaired functions, their combination and influence on each other.

The use of modern diagnostic methods, including genetic studies, in hereditary diseases allows to establish a diagnosis at an early stage, to determine the tactics of managing children in order to ensure timely pathogenetic treatment, including surgical, prevention of the development of severe complications, functional disorders. The successes of medicine can not only significantly improve the quality of life of this category of children, but also increase their life expectancy. Since in most cases hereditary diseases involving the musculoskeletal system are accompanied by persistent disorders of the body’s functions and lead to disability, classifications and criteria for establishing disability should include a quantitative assessment of the degree of impaired functions in congenital anomalies and hereditary diseases.