Acta Med. 2020, 63: 86-90

https://doi.org/10.14712/18059694.2020.23

Pierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms

Girish Gulab Meshrama, Neeraj Kaurb, Kanwaljeet Singh Hurac

aDepartment of Pharmacology, Atal Bihari Vajpayee Institute of Medical Sciences and Research and Dr. Ram Manohar Lohia Hospital, New Delhi, India
bDepartment of Radiology, The University of Texas Health Science Centre, San Antonio, Texas, USA
cDepartment of Paediatrics, Richmond University Medical Centre, Staten Island, New York, USA

Received June 10, 2019
Accepted February 7, 2020

References

1. Logjes RJH, Haasnoot M, Lemmers PMA, et al. Mortality in Robin sequence: identification of risk factors. Eur J Pediatr 2018; 177: 781–9. <https://doi.org/10.1007/s00431-018-3111-4> <PubMed>
2. Gangopadhyay N, Mendonca DA, Woo AS. Pierre Robin Sequence. Semin Plast Surg 2012; 26: 76–82.
3. Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML. Robin sequence: from diagnosis to development of an effective management plan. Pediatrics 2011; 127: 936–48. <https://doi.org/10.1542/peds.2010-2615> <PubMed>
4. Basart H, Paes EC, Maas SM, et al. Etiology and pathogenesis of robin sequence in a large Dutch cohort. Am J Med Genet A 2015; 167A: 1983–92. <https://doi.org/10.1002/ajmg.a.37154>
5. Li WY, Poon A, Courtemanche D, et al. Airway management in Pierre Robin sequence: the Vancouver classification. Past Surg (Oakv) 2017; 25: 14–20. <https://doi.org/10.1177/2292550317693814> <PubMed>
6. Vatlach S, Maas C, Poets CF. Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study. Orphanet J Rare Dis 2014; 9: 9. <https://doi.org/10.1186/1750-1172-9-9> <PubMed>
7. Ratan ZA, Zaman SB, Mehta V, Haidere MF, Runa NJ, Akter N. Application of fluorescence in situ hybridization (FISH) technique for the detection of genetic aberration in medical science. Cureus 2017; 9: e1325.
8. Cohen SM, Greathouse ST, Rabbani CC, et al. Robin sequence: what the multidisciplinary approach can do. J Multidiscp Healthc 2017; 10: 121–32. <https://doi.org/10.2147/JMDH.S98967> <PubMed>
9. Paladini D. Fetal micrognathia: almost always an ominous finding. Untrasound Obstet Gynecol 2010; 35: 377–84. <https://doi.org/10.1002/uog.7639>
10. Xu JX, Kilpatrick N, Baker NL, Penington A, Farlie PG, Tan TY. Clinical and molecular characteristics of children with Pierre Robin sequence. Mol Syndromol 2016; 7: 322–8. <https://doi.org/10.1159/000449115> <PubMed>
11. Yang Y, Yuan J, Yao X, et al. BMPR1B mutation causes Pierre Robin sequence. Oncotarget 2017; 8: 25864–71. <https://doi.org/10.18632/oncotarget.16531> <PubMed>
12. Muller-Hagedorn S, Buchenau W, Arand J, Bacher M, Poets CF. Treatment of infants with syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option. Head Face Med 2017; 13: 4. <https://doi.org/10.1186/s13005-017-0137-1> <PubMed>
13. Paes EC, de Vries IAC, Penris WM, et al. Growth and prevalence of feeding difficulties in children with Robin sequence: a retrospective cohort study. Clin Oral Investig 2017; 21: 2063–76. <https://doi.org/10.1007/s00784-016-1996-8> <PubMed>
14. Bartzela TN, Carels C, Maltha JC. Update of 13 syndromes affecting craniofacial and dental structures. Front Physio 2017; 8: 1038. <https://doi.org/10.3389/fphys.2017.01038> <PubMed>
15. Lopez-Munoz E, Becerra-Solano LE. An update on amniotic bands sequence. Arch Argent Pediatr 2018; 116: e409–e420.
16. Koukouvitaki M, Arkaoumanis PT, Brucknerova J, Brucknerova I. Clinical attitude to the patient with non-syndromic Pierre Robin Sequence with the cleft of soft palate and uvula – The necessity of fibroscopic investigation. Neuro Endocrinol Lett 2019; 40: 5–9.
17. Butow K, Morkel JA, Naidoo S, Zwahlen RA. Pierre Robin sequence: subdivision, data, theories, and treatment – Part 1: syndromic and nonsyndromic Pierre Robin sequence. Ann Maxillofac Surg 2016; 6: 35–7.
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