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

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Abstract

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.

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About the authors

Anna G. Riabokon

The Main Bureau of Medical and Social Expertise in the Leningrad region

Author for correspondence.
Email: ryabokon.ag@lomse.ru
ORCID iD: 0000-0003-4887-4404
SPIN-code: 4296-0934

MD, Cand. Sci. (Med.), Senior Researche

Russian Federation, 43 lit. A Polyustrovsky ave., 195197, St. Petersburg

Olga E. Doronina

The Main Bureau of Medical and Social Expertise in the Leningrad region

Email: doronina.oe@lomse.ru
SPIN-code: 1103-4158
Russian Federation, 43 lit. A Polyustrovsky ave., 195197, St. Petersburg

References

  1. Markova TV, Kenis VM, Melchenko EV, et al. Clinical and genetic characteristics and orthopedic manifestations of the Saul-Wilson syndrome in two Russian patients. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 2020;8(4):451–460. (In Russ). doi: 10.17816/PTORS33826
  2. Ferreira CR, Xia ZJ, Clement A, et al. A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation. Am J Hum Genet. 2018;103(4):553–567. doi: 10.1016/j.ajhg.2018.09.003
  3. Ferreira CR, Zein WM, Huryn LA, et al. Defining the clinical phenotype of Saul-Wilson syndrome. Genet Med. 2020;22(5):857–866. doi: 10.1038/s41436-019-0737-1
  4. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588–608.
  5. The Order of the Ministry of Labor and Social Protection of the Russian Federation dated 27.08.2019 No. 585n “On classifications and criteria used in the implementation of medical and social expertise of citizens by federal state institutions of medical and social expertise”. (In Russ). Available from: https://www.garant.ru/products/ipo/prime/doc/72921006/. Accessed: 18.08.2021.
  6. The Resolution of the Government of the Russian Federation of February 20, 2006 № 95 “On the procedure and conditions for recognizing a person as disabled”. With amendments and additions that entered into force on November 26, 2020. (In Russ). Available from: https://base.garant.ru/12145177/. Accessed: 18.08.2021.
  7. Order of the Ministry of Labor and Social Development of the Russian Federation dated 27.12.2017 No 888n “On approval of the list of indications and contraindications for providing disabled people with technical means of rehabilitation”. (In Russ). Available from: https://www.garant.ru/products/ipo/prime/doc/71793126/. Accessed: 18.08.2021.
  8. International Classification of Diseases and Related Health Problems, ICD-10. With amendments and additions, published by the World Health Organization in 1996-2019. The latest changes to the ICD-10 (as of 2021) were made by WHO in 2019. (In Russ). Available from: https://icd-10.com/. Accessed: 18.08.2021.

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