REVIEW ARTICLE
Orthopedics
doi: 10.25005/2074-0581-2025-27-3-744-752
ON THE ISSUE OF ACHONDROPLASIA

A.V. GRIGORIEVA, N.KH. BAKHTEEVA, I.A. NORKIN

Saratov State Medical University named after V.I. Razumovsky, Saratov, Russian Federation

Achondroplasia is the most common type of skeletal dysplasia. The basis of the disease lies in impaired processes of endochondral ossification as a result of an FGFR3 mutation (fibroblast growth factor receptor 3).

This article presents information regarding both conservative and surgical methods of treating this pathology, as well as the timely diagnosis of achondroplasia. It has been proven that the disease may first be suspected in a fetus at 15-16 weeks of gestation during the first ultrasound examination. In newborns, marked skeletal disproportions are observed: a large head with a prominent occiput and forehead, depressed nasal bridge, “saddle” nose, and hypoplasia of the midface. The upper and lower limbs are shortened, predominantly due to the proximal segments. Subsequently, varus deformities of the lower extremities, thoracic kyphosis, lumbar lordosis, and joint hypermobility develop. The study of the development of this disorder made it possible to create a medication, vosoritide, acting on the pathogenic mechanisms of the disease. This drug was not only developed by the American biotechnology company BioMarin Pharmaceutical, but also clinically tested on 156 children aged 5 to 14 years. The following results were obtained in the course of the study: disproportions did not progress, and the children grew on average by 1.57 cm per year. The article also presents data on the use of various types of limb bone osteotomies, which make it possible to increase patient height by 24-28 cm. Issues of early diagnosis and the search for the optimal strategy of conservative and surgical treatment in children with achondroplasia remain relevant.

This review article aims to analyze data from domestic and foreign literature concerning etiopathogenesis, clinical manifestations, diagnosis, and the results of conservative and surgical treatment.

Literature sources were searched in databases such as PubMed, Medscape, Cochrane Library, Medical ND, and eLibrary among medical research articles published between 1981 and 2022.

Keywords: Achondroplasia, children, conservative and surgical treatment, vosoritide, endochondral ossification.

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Authors' information:

Grigorieva Alyona Vladimirovna,
Candidate of Medical Sciences, Assistant of the Department of Traumatology and Orthopedics, Saratov State Medical University named after V.I. Razumovsky
ORCID ID: 0009-0001-8031-0193
SPIN: 9826-0378
Author ID: 1152569
Е-mail: alena-grig00@mail.ru

Bakhteeva Nellie Khasyanovna,
Doctor of Medical Sciences, Professor of the Department of Traumatology and Orthopedics, Saratov State Medical University named after V.I. Razumovsky
Scopus ID: 57193272937
ORCID ID: 0000-0002-9754-1385
SPIN: 8619-1090
Author ID: 698077
Е-mail: nelly0812@mail.ru

Norkin Igor Alekseevich,
Doctor of Medical Sciences, Full Professor, Head of the Department of Traumatology and Orthopedics, Saratov State Medical University named after V.I. Razumovsky
Researcher ID: B-1958-2017
Scopus ID: 6602239365
ORCID ID: 0000-0002-6770-3398
SPIN: 9253-7993
Author ID: 638852
E-mail: norkinia@sarniito.ru

Information about support in the form of grants, equipment, medications

he authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:

Grigorieva Alyona Vladimirovna
Candidate of Medical Sciences, Assistant of the Department of Traumatology and Orthopedics, Saratov State Medical University named after V.I. Razumovsky

410002, Russian Federation, Saratov, Chernyshevsky str., 148

Tel.: +7 (905) 3279714

E-mail: alena-grig00@mail.ru


This work is licensed under a Creative Commons Attribution 4.0 International License.

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