Pierre Robin Sequence. A Rare Clinical Case

Abstract

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.

Keywords

fetal malformation / microgenia / micrognathia / glossoptosis / cleft palate

References

[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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