DOI:

10.37988/1811-153X_2023_1_6

Clinical significance of the pre- and antenatal period in identifying additional symptoms of craniofacial microsomia

Downloads

Authors

  • N.I. Imshenetskaya 1, 2, PhD in Medical Sciences, associate professor of the Pediatric Maxillo-Facial Surgery Department; associate professor of the Dentistry Department
    ORCID: 0000-0002-5970-2483
  • O.Z. Topol'nitskiy 1, PhD in Medical Sciences, full professor of the Pediatric Maxillo-Facial Surgery Department
    ORCID: 0000-0002-3896-3756
  • D.A. Lezhnev 1, 3, PhD in Medical Sciences, full professor of the Radiology Department; professor of the Therapeutic dentistry Department
    ORCID: 0000-0002-7163-2553
  • Yu.L. Vasil'ev 4, 5, PhD in Medical Sciences, full professor of the Operative surgery and topographic anatomy Department; full professor of the Prosthodontics Department
    ORCID: 0000-0003-3541-6068
  • V.P. Truten' 1, PhD in Medical Sciences, associate professor of the Radiology Department
    ORCID: 0000-0002-0635-4438
  • I. Kuchurka 6, 5th year student at the Medical faculty
    ORCID: 0000-0001-8965-1894
  • 1 Moscow State University of Medicine and Dentistry, 127473, Moscow, Russia
  • 2 Moscow Medical University “REAVIZ”, 107564, Moscow, Russia
  • 3 Russian Medical Academy of Continuous Professional Education, 125993, Moscow, Russia
  • 4 Sechenov University, 119991, Moscow, Russia
  • 5 Kazan State Medical University, 420012, Kazan, Russia
  • 6 Mechnikov North-West State Medical University, 191015, Saint-Petersburg, Russia

Abstract

Craniofacial microsomia syndrome is one of the manifestations of maxillofacial dysostoses. Its characteristic symptoms are identified by the OMENSplus classification, where “OMENS” is an anagram of the named affected organs of the head, “plus” is other symptoms. The search for a relationship in the etiology and pathogenesis of the main and increased symptoms of craniofacial microsomia is relevant. The purpose of the study was to identify the features of the course of pregnancy, childbirth and concomitant diseases in patients with craniofacial microsomia syndromes. >. The anamnesis of life, diseases, conclusions of specialists who were registered with 111 patients from 0 to 18 years old with craniofacial microsomia syndrome from 2011 to 2022 were studied. The results were compared with literature data. >. In mothers of the examined children, the first pregnancy in a row prevailed (46%). Among the aggravated obstetric anamnesis, there were: cord entanglement, fetal hypoxia, premature detachment of a normally located placenta, retroplacental hematoma, phenoplacental insufficiency, impaired fat metabolism, gestational diabetes mellitus, anemia, infectious diseases, including pneumonia, cytomegalovirus infection, viral hepatitis C, syphilis as well as IVF. Among the comorbidities of patients, the following prevailed: disorders of the central nervous system (31%), anomalies in the development of the heart (25%), chest deformity (14%) and a vicious head position (9%), which does not contradict the literature data, but does not confirm them. due to insufficient number of observations. >. 1) The etiology of craniofacial microsomia is multifactorial. 2) Concomitant pathologies in patients with craniofacial microsomia can be both independent diseases and additional symptoms of the syndrome. 3) The analysis of the DNA test for the duplication of the 22q11.2 gene should be included in the clinical recommendations, however, even if the result of this genetic study is available, it is not possible to assess the risk of symptoms of craniofacial microsomia syndrome. 4) To verify the diagnosis, a multidisciplinary approach is required, including radiation methods of examination.

Key words:

craniofacial microsomia, hemifacial microsomia, Goldenhar syndrome, maxillofacial dysostosis, congenital anomaly, facial malformations

For Citation

[1]
Imshenetskaya N.I., Topol’nitskiy O.Z., Lezhnev D.A., Vasil’ev Yu.L., Truten’ V.P., Kuchurka I. Clinical significance of the pre- and antenatal period in identifying additional symptoms of craniofacial microsomia. Clinical Dentistry (Russia).  2023; 26 (1): 6—11. DOI: 10.37988/1811-153X_2023_1_6

References

  1. Birgfeld C., Heike C. Craniofacial microsomia. Clin Plast Surg. 2019; 46 (2): 207—221. PMID: 30851752
  2. Allam K.A. Hemifacial microsomia: Clinical features and associated anomalies. J Craniofac Surg. 2021; 32 (4): 1483—1486. PMID: 33587521
  3. Tuin J., Tahiri Y., Paliga J.T., Taylor J.A., Bartlett S.P. Distinguishing Goldenhar syndrome from craniofacial microsomia. J Craniofac Surg. 2015; 26 (6): 1887—92. PMID: 26267577
  4. Brandstetter K.A., Patel K.G. Craniofacial Microsomia. Facial Plast Surg Clin North Am. 2016; 24 (4): 495—515. PMID: 27712817
  5. Tuin A.J., Tahiri Y., Paine K.M., Paliga J.T., Taylor J.A., Bartlett S.P. Clarifying the relationships among the different features of the OMENS+ classification in craniofacial microsomia. Plast Reconstr Surg. 2015; 135 (1): 149e-156e. PMID: 25539322
  6. Caron C.J.J.M., Pluijmers B.I., Wolvius E.B., Looman C.W.N., Bulstrode N., Evans R.D., Ayliffe P., Mulliken J.B., Dunaway D., Padwa B., Koudstaal M.J. Craniofacial and extracraniofacial anomalies in craniofacial microsomia: a multicenter study of 755 patients'. J Craniomaxillofac Surg. 2017; 45 (8): 1302—1310. PMID: 28684073
  7. Renkema R.W., Caron C.J.J.M., Wolvius E.B., Dunaway D.J., Forrest C.R., Padwa B.L., Koudstaal M.J. Central nervous system anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg. 2018; 47 (1): 27—34. PMID: 28736116
  8. Ronde E.M., Nolte J.W., Kruisinga F.H., Maas S.M., Lapid O., Ebbens F.A., Becking A.G., Breugem C.C. Evaluating international diagnostic, screening, and monitoring practices for craniofacial microsomia and microtia: A survey study. Cleft Palate Craniofac J. 2022; 10556656221093912. PMID: 35469463
  9. Imshenetskaya N.I., Topolnitskiy O.Z., Smyslenova M.V., Lezhnev D.A., Slyus O.I. Analysis of signs and symptoms in patients with craniofacial microsomia and their treatment. Pediatric Dentistry and Profilaxis. 2021; 4 (80): 245—250 (In Russ.). eLIBRARY ID: 47868437
  10. Pisareva S.E., Chasha T.V., Gorozanina T.Z. Insufficient anomalies of development of heart in newborn depending on the term of gestation. Siberian medical journal (Irkutsk). 2007; 2: 44—46 (In Russ.). eLIBRARY ID: 18050177
  11. Belozerov Yu.M., Bregel L.V., Subbotin V.M. Prevalence of congenital heart diseases in children at the present stage. Russian Bulletin of Perinatology and Pediatrics. 2014; 6: 7—11 (In Russ.). eLIBRARY ID: 22705154
  12. Alexander B.T., Dasinger J.H., Intapad S. Fetal programming and cardiovascular pathology. Compr Physiol. 2015; 5 (2): 997—1025. PMID: 25880521
  13. Efimenko O.V., Knyazheva E.D. The role of small heart anomalies in the structure of congenital heart disease. NovaInfo.Ru. 2018; 90: 250—253 (In Russ.). eLIBRARY ID: 36072890
  14. Zhumadillaeva D.K. Congenital anomalies of the urinary system Cause of urinary tract infections. Vestnik KazNMU. 2013; 3 (2): 117—118 (In Russ.).
  15. Guseinova S.R. Prevalence of anomalies of the urinary system among the inhabitants of the Republic of Dagestan. In: Proceedings of 83rd Conference of Student Scientific Society of Prof. N.P. Pyatnitsky. Krasnodar: Kuban State Medical University, 2022. Pp. 455—456 (In Russ.). eLIBRARY ID: 49356127
  16. Anufrieva V.S., Rudakova A.A., Savchenko A.Y. The role of genetic risk factors in the development of urinary system anomalies. Integrative trends in medicine and education. 2022; 4: 23—27 (In Russ.). eLIBRARY ID: 49965309
  17. Murugapoopathy V., Gupta I.R. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020; 15 (5): 723—731. PMID: 32188635
  18. Houat A.P., Guimarães C.T.S., Takahashi M.S., Rodi G.P., Gasparetto T.P.D., Blasbalg R., Velloni F.G. Congenital anomalies of the upper urinary tract: A comprehensive review. Radiographics. 2021; 41 (2): 462—486. PMID: 33513074
  19. Maslova G.T., Sidorov A.V. Developmental biology. Organogenesis and mechanisms of ontogenesis. Lecture course. Minsk: Belarusian State University, 2012. Pp. 38—39. (In Russ.). eLIBRARY ID: 38141391
  20. Oshurko A.P., Oliinyk I.Yu. Morphogenetic transformations of the upper jaw rudiment and the structures of the maxillofacial region in human pre-fetuses aged 10—12 weeks of prenatal ontogenesis. Morphologia. 2017; 3: 13—20 (In Ukrainian). eLIBRARY ID: 35352339
  21. Zhao S., Sun P., Li X., Xu X., Peng Q., Shu K., Ma L., Liang Y., Liu B., Zhang Z. Identification of hub genes in hemifacial microsomia: Evidence from bioinformatic analysis. J Craniofac Surg. 2022; 33 (2): e145-e149. PMID: 34855631
  22. Spineli-Silva S., Sgardioli I.C., Dos Santos A.P., Bergamini L.L., Monlleó I.L., Fontes M.I.B., Félix T.M., Ribeiro E.M., Xavier A.C., Lustosa-Mendes E., Gil-da-Silva-Lopes V.L., Vieira T.P. Genomic imbalances in craniofacial microsomia. Am J Med Genet C Semin Med Genet. 2020; 184 (4): 970—985. PMID: 33215817
  23. Zhou Y.Q., Ji J., Mu X.Z., Zhang R.H., Wei M., Yu Z.Y. Diagnosis and classification of congenital craniofacial cleft deformities. J Craniofac Surg. 2006; 17 (1): 198—201. PMID: 16432437
  24. Bartik L.E., Hughes S.S., Tracy M., Feldt M.M., Zhang L., Arganbright J., Kaye A. 22q11.2 duplications: Expanding the clinical presentation. Am J Med Genet A. 2022; 188 (3): 779—787. PMID: 34845825
  25. Werler M.M., Sheehan J.E., Hayes C., Padwa B.L., Mitchell A.A., Mulliken J.B. Demographic and reproductive factors associated with hemifacial microsomia. Cleft Palate Craniofac J. 2004; 41 (5): 494—50. PMID: 15352870
  26. Werler M.M., Sheehan J.E., Hayes C., Mitchell A.A., Mulliken J.B. Vasoactive exposures, vascular events, and hemifacial microsomia. Birth Defects Res A Clin Mol Teratol. 2004; 70 (6): 389—95. PMID: 15211707
  27. Topolnitskiy O.Z., Tutueva T.A., Imshenetskaya N.l., Mamedov M.A. Introduction of the distance methods of genetic counseling for the parents of children with craniofacial microsomia. Determination of the frequency of inheritance of the shape of the auricle. Endodontics Today. 2018; 3: 72—75 (In Russ.). eLIBRARY ID: 36499729
  28. McGrath-Morrow S.A., Gorzkowski J., Groner J.A., Rule A.M., Wilson K., Tanski S.E., Collaco J.M., Klein J.D. The effects of nicotine on development. Pediatrics. 2020; 145 (3): 10. PMID: 32047098
  29. Chudnovets A., Liu J., Narasimhan H., Liu Y., Burd I. Role of inflammation in virus pathogenesis during pregnancy. J Virol. 2020; 95 (2): 10. PMID: 33115865
  30. Miller E., Cradock-Watson J.E., Pollock T.M. Consequences of confirmed maternal rubella at successive stages of pregnancy. Lancet. 1982; 2 (8302): 781—4. PMID: 6126663
  31. Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol. 1973; 35 (3): 302—28. PMID: 4631568
  32. Poswillo D. The aetiology and pathogenesis of craniofacial deformity. Development. 1988; 103 Suppl: 207—12. PMID: 3074909

Downloads

Received

December 19, 2022

Accepted

February 10, 2023

Published on

March 22, 2023