Pierre Robin Sequence. A Rare Clinical Case

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The incidence of fetal malformations has not shown a downward trend. Congenital malformations of the fetus often lead to perinatal mortality and disability of newborns. Fetal ultrasound is still the main method of diagnosing these defects. However, unfortunately, in some cases, anomalies are detected only in the neonatal period. This article describes Pierre Robin sequence, which is a congenital malformation of the maxillofacial region. The malformation is defined as a congenital anomaly characterized by the presence of glossoptosis, micrognathia, and airway obstruction, which leads to various complications. Early recognition and appropriate perinatal management are crucial for improving pregnancy outcomes. Clinical studies conducted in recent years have shown that early prenatal diagnosis and counseling of a geneticist are becoming increasingly important, especially for families with risk factors for having children with malformations. In addition, when comparing clinical cases and scientific data, attention is drawn to the fact that in all cases of children with Pierre Robin syndrome, respiratory failure (of varying severity) due to congenital pneumonia was noted.

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作者简介

Patimat Gadzhieva

Astrakhan State Medical University

编辑信件的主要联系方式.
Email: pati.gadzhiewa2012@yandex.ru
ORCID iD: 0000-0002-1522-3819
SPIN 代码: 3893-0393

MD, Cand. Sci. (Medicine), Assistant Professor

俄罗斯联邦, Astrakhan

Lyudmila Dikareva

Astrakhan State Medical University

Email: dikarevalv@mail.ru
ORCID iD: 0000-0001-9179-1669
SPIN 代码: 8676-7475

Dr. Sci. (Medicine), Professor

俄罗斯联邦, Astrakhan

Tatyana Borisova

Alexander-Mariinsky Regional Clinical Hospital

Email: borisovatv2025@mail.ru
ORCID iD: 0009-0008-2475-9130

MD

俄罗斯联邦, Astrakhan

Irina Savelyeva

Alexander-Mariinsky Regional Clinical Hospital

Email: irina_sav_2004@mail.ru
ORCID iD: 0009-0002-9911-0877

MD

俄罗斯联邦, Astrakhan

参考

  1. Treatment of children with Pierre Robin syndrome. Methodological recommendations. Moscow; 2020. 42 р. (In Russ.) [cited 2025 Jan 9]. Available from: https://niioz.ru/upload/iblock/598/5987f453f05c22013ba7054a6c608dda.PDF?ysclid=m6eof02azs452027427/
  2. Bromley B, Benacerraf BR. Fetal micrognathia: associated anomalies and outcome. J Ultrasound Med. 1994;13(7):529–533. doi: 10.7863/jum.1994.13.7.529
  3. Holder-Espinasse M, Abadie V, Cormier-Daire V, et al. Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr. 2001;139(4):588–590. doi: 10.1067/mpd.2001.117784
  4. van den Elzen AP, Semmekrot BA, Bongers EM, et al. Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. Eur J Pediatr. 2001;160(1):47–53. EDN: AVQMOV doi: 10.1007/s004310000646
  5. Bronshtein M, Blazer S, Zalel Y, et al. Ultrasonographic diagnosis of glossoptosis in fetuses with Pierre Robin sequence in early and mid pregnancy. Am J Obstet Gynecol. 2005;193(4):1561–1564. doi: 10.1016/j.ajog.2005.03.052
  6. Shibelgut NM, Litovchenko EV, Gorbunova EJ, et al. Clinical case of Pierre Robin’s syndrome in a newborn child. Mother and Baby in Kuzbass. 2014;(3):64–66. EDN: SUDUAD
  7. Lind K, Aubry MC, Belarbi N, et al. Prenatal diagnosis of Pierre Robin sequence: accuracy and ability to predict phenotype and functional severity. Prenat Diagn. 2015;35(9):853–858. doi: 10.1002/pd.4619
  8. Di Pasquo E, Amiel J, Roth P, et al. Efficiency of prenatal diagnosis in Pierre Robin sequence. Prenat Diagn. 2017;37(11):1169–1175. doi: 10.1002/pd.5162
  9. Zurkholova KhR, Muzafarov ShS, Zarifova PG. Pierre Robin’s syndrome in practice of neonatologist. Bulletin of postgraduate education in healthcare. 2021;(3):118–121. EDN: OKZSEG
  10. Glavackaja EN, Zverko VL, Pribushenja OV, et al. Clinical observation of a family case of genetic syndrome including Pierre Robin anomalads. In: Gutikova LV, editor. Topical issues in obstetrics and gynecology. Grodno; 2021. P. 28–31. (In Russ.) EDN: ZRQNAJ
  11. Zhong C, Xie Z, Dong H, et al. Prenatal diagnosis of Pierre Robin sequence and its prognosis: a retrospective cohort study. Am J Perinatol. 2024;41(S1):e1639–e1646. EDN: DAHMIN doi: 10.1055/s-0043-1768233
  12. Bruce MK, Islam R, Anstadt EE, et al. Mandibular measurements at the 20-week anatomy ultrasound as a prenatal diagnostic predictor of Pierre Robin sequence. Cleft Palate Craniofac J. 2023;60(3):352–358. EDN: XADAOE doi: 10.1177/10556656211064771

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2. Fig. 1. Pierre Robin sequence (3D image, 24 weeks of pregnancy).

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