Principles of medical support for children with connective tissue dysplasia

Consultation with a gynecologist – 1,750 rubles.

Dysplasia is a term that refers to the pathology of the development of body cells, tissues and entire organs. This disease can occur during fetal development, in infancy and in adults.

There are several mechanisms for the development of dysplasia:

• violation of cell sizes, in which they acquire different sizes;
• cells taking on an uncharacteristic shape;
• changes in cell pigment;
• disruption in the process of cell division.

The most common forms of dysplasia include:

• cervical dysplasia;
• connective tissue dysplasia;
• fibrous form of dysplasia;
• damage to the hip joint;
• dysplasia of the bronchopulmonary system;
• dysplasia of dental tissue.

Symptoms

• The clinical picture of dysplasia depends on which organ is affected.
• Cervical dysplasia manifests itself:
• menstrual irregularities;
• whitish discharge from the genitals;
• pain in the lower abdomen;
• unpleasant sensations during sexual intercourse.

Hip dysplasia is characterized by:

• limited mobility in the hip joint;
• asymmetrical skin folds on the inner thighs;
• presence of a click when flexing the hip joint;
• shortening of one leg relative to the other.

Symptoms of connective tissue dysplasia:

• thinning of the skin or the appearance of scarring on it;
• deformations of the skeleton and joints;
• decrease in muscle mass;
• changes in the tissues of internal organs, for example, vasodilation, bronchial defects.

Medical staff

Vladimir Vladimirovich Lantsov

Head of the department - traumatologist-orthopedist

• Education: higher medical, graduated from Russian State Medical University in 2003.
• Certificate in the specialty "Traumatology-orthopedics"
• Doctor of Osteopathy (DO)
• Member of the Russian Osteopathic Association

Kuzin Alexander Sergeevich

Traumatologist-orthopedist

• Education: higher medical, graduated from the 2nd Moscow State Medical Institute named after. N.I. Pirogov in 1974
• Diploma specialty: “Pediatrics”, qualification: “Doctor”
• Certificate in the specialty “Traumatology-Orthopedics”, valid until 2024.
• Certificate in the specialty “Surgery (children)”, valid until 2023.

Kozlov Alexander Sergeevich

Traumatologist-orthopedist

• Education: higher medical, graduated from the 2nd Moscow State Medical Institute named after. N.I. Pirogov in 1993
• Diploma specialty: “Pediatrics”, qualification: “Doctor”
• Certificate in the specialty “Traumatology-Orthopedics”, valid until 2022.
• Certificate in the specialty “Surgery (children)”, valid until 2023.
• Qualification category: highest
• Candidate of Medical Sciences

Makhrov Lev Alexandrovich

Traumatologist-orthopedist

• Education: higher medical, graduated from the 2nd Moscow State Medical Institute named after. N.I. Pirogov in 1982
• Diploma specialty: "Pediatrics", qualification: "Doctor"
• Certificate in the specialty “Traumatology-Orthopedics”, valid until 2024.
• Certificate in the specialty “Surgery (children)”, valid until 2023.
• Qualification category: highest
• Candidate of Medical Sciences

Moiseev Sergey Nikolaevich

Traumatologist-orthopedist

• Education: higher medical, graduated from the 2nd Moscow State Medical Institute named after. N.I. Pirogov in 1981
• Diploma specialty: “Pediatrics”, qualification: “Doctor”
• Certificate in the specialty “Traumatology-Orthopedics”, valid until 2024.
• Certificate in the specialty “Surgery (children)”, valid until 2023.
• Qualification category: highest
• Candidate of Medical Sciences

Panteleev Andrey Andreevich

Traumatologist-orthopedist

• Education: higher medical education, graduated from Moscow State University. M.V. Lomonosov in 2014
• Certificate in Traumatology and Orthopedics
• Academic degree: Candidate of Medical Sciences

Sautenko Alexander Alexandrovich

Traumatologist-orthopedist

• Education: higher medical education, graduated from Russian National Research Medical University named after. N.I. Pirogov in 2014
• Certificate in the specialty "Traumatologist-orthopedist"
• Academic degree: Candidate of Medical Sciences

Trubin Ivan Valerievich

Traumatologist-orthopedist

• Education: higher medical education, graduated from the Voronezh State Medical Academy named after. Burdenko in 2001
• Diploma specialty: “Pediatrics”, qualification: “Doctor”
• Certificate in the specialty “Traumatology-Orthopedics”, valid until 2023.
• Certificate in the specialty “Surgery (children)”, valid until 2023.
• Qualification category: highest

Diagnostics

SM-Clinic specialists diagnose dysplasia based on complaints, general examination and additional research methods:

• in case of cervical dysplasia, the vaginal mucosa is examined with mirrors, colposcopy, biopsy followed by cytological examination;
• To establish hip dysplasia, X-ray examination, ultrasound diagnostics, and magnetic resonance imaging are prescribed;
• Connective tissue dysplasia is detected using ultrasound of internal organs, X-ray examination of the lungs and skeleton, ECG, Echo-CG, blood system examination.

Treatment

At SM-Clinic, treatment for each patient is selected individually and depending on the form of the disease. Methods used:

• cervical dysplasia - destruction of atypical cells using cryodestruction, laser coagulation, surgery;
• hip dysplasia - the child is prescribed wide swaddling, splints and spacers, and if ineffective, surgical treatment is used;
• connective tissue dysplasia - for such patients, a maintenance regimen with the help of physical therapy, physiotherapy, and massage is recommended. Vitamin therapy and drugs to improve metabolic processes are prescribed.

You can get diagnosed and begin treatment for dysplasia in our clinic in St. Petersburg. To make an appointment, call us or use the online form.

Links[edit]

1. E. L. Sobky, T. A.; Shawky, R. M.; Sacre, H. M.; Elsayed, S.M. Elsayed, N.S. Ragheb, S.G.; Gamal, R. (November 15, 2021). "A systematic approach to radiographic evaluation of commonly observed genetic bone diseases in children: an illustrated review." J Musculoskelet Surg Res
   .
   1
   (2): 25. doi: 10.4103/jmsr.jmsr_28_17. S2CID 79825711.
2. Canepa, Giuseppe; Maroteau, Pierre; Pietrogrande, Vincenzo (2001). Dysmorphic syndromes and constitutional diseases of the skeleton
   . Padua: Piccin. ISBN 978-88-299-1502-6.
3. ^ abc Lachman, Ralph S.; Krakow, Deborah; Cohn, Daniel H.; Rimoan, David L. (21 October 2004). "MED, COMP, multilayered and NEIN: a review of multiple epiphyseal dysplasia". Pediatric Radiology
   .
   35
   (2): 116–123. DOI: 10.1007/s00247-004-1323-4. PMID 15503005. S2CID 7728788.
4. "Multiple epiphyseal dysplasia (MED) - Pediatrics - Orthobulettes".
5. "Collagen COL9A1 type IX alpha 1".
6. "Collagen COL9A2 type IX alpha 2".
7. "Collagen COL9A3 type IX alpha 3".
8. "COMP cartilage oligomeric matrix protein".
9. "MATN3 matrilin 3".
10. d Briggs, Michael; Wright, Michael J; Mortier, Geert R. (25 July 2013) [2003]. "Multiple epiphyseal dysplasia, autosomal dominant". GeneReviews
    . University of Washington, Seattle. PMID 20301302. Archived from the original on May 3, 2014. Retrieved May 3, 2014.
11. Briggs, Michael D.; Chapman, Catherine L. (May 2002). "Pseudoachondroplasia and multiple epiphyseal dysplasia: a review of mutations, molecular interactions, and genotype-phenotype correlations." Human mutation
    .
    19
    (5): 465–478. DOI: 10.1002/humu.10066. PMID 11968079.
12. Paulsson M, Heinegard D (1981). "Purification and structural characterization of cartilage matrix protein". BiochemJ
    .
    197
    (2):367–75. DOI: 10.1042/bj1970367. PMC 1163135. PMID 7325960.
13. "Gene maps".
14. Jackson, Gail S.; Mittaz-Krettol, Laurean; Taylor, Jacqueline A.; Mortier, Geert R.; Spranger, Jurgen; Zabel, Bernhard; Le Merrer, Martine; Cormier-Dare, Valerie; Hall, Christina M.; Ofia, Amaka; Wright, Michael J.; Savarirayan, Ravi; Nishimura, Gen; Ramsden, Simon S.; Elles, Rob; Bonafé, Louise; Superti-Furga, Andrea; Unger, Sheila; Zankl, Andreas; Briggs, Michael D. (January 2012). "Pseudoachondroplasia and multiple epiphyseal dysplasia: 7-year comprehensive analysis of known disease genes identifies new and recurrent mutations and provides an accurate estimate of their relative contribution". Human mutation
    .
    33
    (1): 144–157. DOI: 10.1002/humu.21611. PMC 3272220. PMID 21922596.
15. "MATN3 Review".
16. "SLC26A2 Solute Carrier Family 26".
17. Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993
18. Trehan R, Dabbas N, Allwood D, Agarwal M, Kinmont S (2008). "Arthroscopic decompression and incision repair for long-term anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report". J Med Case Rep
    .
    2
    : 172. DOI: 10.1186/1752-1947-2-172. PMC 2412893. PMID 18498631.
19. Linden, Suzanne K. Campbell, Robert J. Palisano, Darl W. Vander (2005). Therapeutic physical education for children
    (3rd ed.). Philadelphia, PA: Elsevier Saunders. ISBN 978-0-7216-0378-0.
20. Bajuifer S, Letts M (April 2005). “Multiple epiphyseal dysplasia in children: beware of overdose!” (PDF). Maybe J Surg
    .
    48
    (2): 106–9. PMC 3211605. PMID 15887789. Archived from the original (PDF) on 12/07/2018. Retrieved February 15, 2009.
21. Jurgen Maeurer (2006). Knee Imaging Strategies
    . ISBN 978-3-13-140561-6.
22. Paans, Nienke; van den Akker-Schick, Inge; van der Meer, Klaas; Bulstra, Sjoerd K; Stevens, Martin (23 February 2009). "Effects of exercise and weight loss in overweight patients with hip osteoarthritis: design of a prospective cohort study". BMC Musculoskeletal Disorders
    .
    10
    (1): 24. DOI: 10.1186/1471-2474-10-24. PMC 2649885. PMID 19236692.
23. L. Echternach, Ed. John (1990). Therapeutic exercise of the hip
    . New York... [etc.]: Churchill Livingston. ISBN 978-0-443-08650-2.
24. Michael Benson; John Fixen; Malcolm McNicol; Klausdieter Parsch, ed. (February 2, 2010). Pediatric orthopedics and fractures. Springer. ISBN 978-1-84882-610-6. Retrieved May 3, 2014.
25. Oehlmann, R; Summerville, GP; Yep, G; Weaver, E. J.; Jimenez, S.A.; Knowlton, R.G. (January 1994). "Mapping the genetic link of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19". American Journal of Human Genetics
    .
    54
    (1): 3–10. PMC 1918067. PMID 8279467.
26. Briggs, Michael D.; Merete Rasmussen, I.; Weber, James L.; Yuen, Juliet; Reinker, Kent; Garber, Anne P.; Rimoin, David L.; Cohn, Daniel H. (December 1993). "Genetic association of pseudoachondroplasia mild (PSACH) with markers in the pericentromeric region of chromosome 19." Genomics
    .
    18
    (3):656–660. doi:10.1016/s0888-7543(05)80369-6. PMID 8307576.
27. Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, et al (1995). "Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene." Nat Genet
    .
    10
    (3): 330–6. DOI: 10.1038/ng0795-330. PMID 7670472. S2CID 43867448.
28. Knowlton RG, Cekleniak JA, Cohn DH, Briggs MD, Hoffman SM, Brandriff BF, et al (1995). "High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations on chromosome 19p13.1-p12." Genomics
    .
    28
    (3):513–9. DOI: 10.1006/geno.1995.1183. PMID 7490089.
29. Svensson, L., Aszodi, A., Heinegard, D., Hunziker, E. B., Reinholt, F. P., Fessler, R., et al. (2002). "Mice deficient in cartilage oligomeric matrix protein have normal skeletal development". Mol Cell Biol
    .
    22
    (12): 4366–71. DOI: 10.1128/mcb.22.12.4366-4371.2002. PMC 133870. PMID 12024046.
30. Pirog-Garcia KA, Meadows RS, Knowles L, Heinegård D, Thornton DJ, Kadler KE, et al (2007). "Reduced cell proliferation and increased apoptosis are important pathological mechanisms in a mouse model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP". Hum Mol Genet
    .
    16
    (17):2072–88. DOI: 10.1093/HMG/ddm155. PMC 2674228. PMID 17588960.
31. Pirog KA, Yak O, Katakur Y, Meadows RS, Kadler KE, Boot-Handford RP et al (2010). "Mouse model offers new insight into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia". Hum Mol Genet
    .
    19
    (1):52–64. DOI: 10.1093/HMG/ddp466. PMC 2792148. PMID 19808781.
32. Czarny-Ratajczak M, Lohiniva J, Rogala P, et al (November 2001). "Mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence of locus heterogeneity". I am. J.Hum. Genet
    .
    69
    (5): 969–80. DOI: 10.1086/324023. PMC 1274373. PMID 11565064.
33. ↑
    Jenkins, Mark (September 26, 2013).
    “For rich and for poor, but what about this disappearing middle?” . NPR
    . Retrieved October 5, 2015.
34. Joseph, Pat (2013-09-10). “Lights, camera, economics. Robert Reich brings his message to the big screen." Berkeley
    . Retrieved October 5, 2015.
35. ↑
    Leibovich, Mark (March 14, 2002).
    "The True Measure of a Man". Washington Post
    . Archived from the original on April 23, 2003. Retrieved November 8, 2008.
36. David Wetherill; Parasport Archived December 24, 2012 at Archive.today