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Robin Sequence

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Cleft Lip and Palate Treatment

Abstract

Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Consensus was reached that micrognathia is the primary characteristic of RS. Other mandatory diagnostic characteristics include glossoptosis and airway obstruction. Cleft palate is considered a common and additional feature (Breugem and Evans 2016). The incidence of RS in the general population is 1/8500–1/14000 live births (Bush and Williams 1983; Printzlau and Andersen 2004) (Fig. 15.1).

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References

  • Abadie V, Morisseau-Durand MP, Beyler C, Manach Y, Couly G. Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. Eur J Pediatr. 2002;161(5):275–80.

    Article  PubMed  Google Scholar 

  • Abramowicz S, Bacic JD, Mulliken JB, Rogers GF. Validation of the GILLS score for tongue-lip adhesion in Robin sequence patients. J Craniofac Surg. 2012;23(2):382–6.

    Article  PubMed  Google Scholar 

  • Alonso N, Freitas RS. Mandibular distraction: comparison between intraoral and extraoral devices. Braz J Craniomaxillofac Surg. 2002;5(2):15–8.

    Google Scholar 

  • Anderson IC, Sedaghat AR, McGinley BM, et al. Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence. Cleft Palate Craniofac J. 2011;48(5):614–8.

    Article  PubMed  Google Scholar 

  • Antony AK, Sloan GM. Airway obstruction following palatoplasty: analysis of 247 consecutive operations. Cleft Palate Craniofac J. 2002;39(2):145–8.

    Article  PubMed  Google Scholar 

  • Antunes RB, Alonso N, Paula RG. Importance of early diagnosis of Stickler syndrome in newborns. J Plast Reconstr Aesthet Surg. 2012;65(8):1029–34.

    Article  PubMed  Google Scholar 

  • Argamaso RV. Glossopexy for upper airway obstruction in Robin sequence. Cleft Palate Craniofac J. 1992;29(3):232–8.

    Article  CAS  PubMed  Google Scholar 

  • Baudon JJ, Renault F, Goutet JM, Flores Guevara R, Soupre V, Gold F, Vazquez MP. Motor disfunction of the upper digestive tract in Pierre Robin sequence as assessed by sucking-swallowing eletromyography and esophageal manometry. J Pediatr. 2002;140:719–23.

    Article  PubMed  Google Scholar 

  • Breugem CC, Evans KN. Best practices for the diagnosis and evaluation of infants with Robin sequence- a clinical consensus report. JAMA Pediatr. 2016;170(9):894–902.

    Article  PubMed  Google Scholar 

  • Bromley B, Benacerraf BR. Fetal micrognathia: associated anomalies and outcome. J Ultrasound Med. 1994;13(7):529–33.

    Article  CAS  PubMed  Google Scholar 

  • Bronshtein M, Blazer S, Zalel Y, Zimmer EZ. Ultrasonographic diagnosis of glossoptosis in fetuses with Pierre Robin sequence in early and mid pregnancy. Am J Obstet Gynecol. 2005;193(4):1561–4.

    Article  PubMed  Google Scholar 

  • Brouillette RT, Morielli A, Leimanis A, Waters KA, Luciano R, Ducharme FM. Nocturnal pulse oximetry as an abbreviated testing modality for pediatric obstructive sleep apnea. Pediatrics. 2000;105(2):405–12.

    Article  CAS  PubMed  Google Scholar 

  • Bush PG, Williams AJ. Incidence of the Robin anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983;36:434–7.

    Article  CAS  PubMed  Google Scholar 

  • Carpes AF. Avaliação polissonográfica e endoscópica em pacientes com Sequência de Robin isolada submetidas à palatoplastia. [tese]. São Paulo: Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo; 2011.

    Google Scholar 

  • Chung MT, Levi B, Hyun JS, Lo DD, Montoro DT, Lisiecki J. Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. J Craniofac Surg. 2012;23(7 Suppl 1):1959–63.

    PubMed  PubMed Central  Google Scholar 

  • Cohen MM Jr. The Robin anomalad: its nonspecificity and associated syndromes. J Oral Surg. 1976;34:587–93.

    PubMed  Google Scholar 

  • Cohen MM Jr. Syndromology’s message for craniofacial biology. J Maxilofac Surg. 1979;7:89–109.

    Article  Google Scholar 

  • Cohen MM Jr. Robin sequences and complexes: casual heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet. 1999;84(4):311–5.

    Article  PubMed  Google Scholar 

  • Edwards JR, Newall DR. The Pierre Robin syndrome reassessed in the light of recent research. Br J Plast Surg. 1985;38(3):339–42.

    Article  CAS  PubMed  Google Scholar 

  • Elliot MA, Studen-Pevovich DA, Ranalli DN. Prevalence of selected pediatric conditions in children with Pierre Robin sequence. Pediatr Dent. 1995;17(2):106–11.

    Google Scholar 

  • Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 2006;70(6):973–80. Epub 2006 Jan 26

    Article  PubMed  Google Scholar 

  • 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(5):936–48.

    Article  PubMed  PubMed Central  Google Scholar 

  • Fletcher MM, Blum SL, Blanchard CL. Pierre Robin syndrome pathophysiology of obstructive episodes. Laryngoscope. 1969;79:547–59.

    Article  CAS  PubMed  Google Scholar 

  • Freed G, Pearlman MA, Brown AS, Barot LR. Polysomnographic indications for surgical intervention in Pierre Robin sequence: acute airway management and follow-up studies after repair and take-down of tongue-lip adhesion. Cleft Palate J. 1988;25(2):151–5.

    CAS  PubMed  Google Scholar 

  • Freeman MK, Manners JM. Cor pulmonale and the Pierre Robin anomaly. Airway management with a nasopharyngeal tube. Anaesthesia. 1980;35(3):282–6.

    Article  CAS  PubMed  Google Scholar 

  • Glander K 2nd, Cisneros GJ. Comparison of the craniofacial characteristics of two syndromes associated with the Pierre Robin sequence. Cleft Palate Craniofac J. 1992;29(3):210–9.

    Article  PubMed  Google Scholar 

  • Hong P, Bezuhly M, Mark Taylor S, Hart RD, Kearns DB, Corsten G. Tracheostomy versus mandibular distraction osteogenesis in Canadian children with Pierre Robin sequence: a comparative cost analysis. J Otolaryngol Head Neck Surg. 2012;41(3):207–14.

    PubMed  Google Scholar 

  • Izumi K, Konczal LL, Mitchell AL, Jones MC. Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review. J Pediatr. 2012;160(4):645–50 e2.

    Article  PubMed  Google Scholar 

  • Jakobsen LP, Knudsen MA, Lespinasse J, García Ayuso C, Ramos C, Fryns JP. The genetic basis of the Pierre Robin sequence. Cleft Palate Craniofac J. 2006;43:155–9.

    Article  PubMed  Google Scholar 

  • Jakobsen LP, Ullman R, Christensen SB, Jensen KE, Molsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007;44:381–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jarrahy R. Controversies in the management of neonatal micrognathia: to distract or not to distract, that is the question. J Craniofac Surg. 2012;23(1):243–9.

    Article  PubMed  Google Scholar 

  • Lidsky ME, Lander TA, Sidman JD. Resolving feeding difficulties with early airway intervention in Pierre Robin sequence. Laryngoscope. 2008;118:120–3.

    Article  PubMed  Google Scholar 

  • Luedders DW, Bohlmann MK, Germer U, Axt-Fliedner R, Gembruch U, Weichert J. Fetal micrognathia: objective assessment and associated anomalies on prenatal sonogram. Prenat Diagn. 2011;31(2):146–51.

    Article  PubMed  Google Scholar 

  • Macedo EF. Avaliação endoscópica da deglutição com nasofaringolaringoscópio (FEESH) na abordagem da disfagia orofaríngea. In: Castro LPS-RP, Melo JCR, Costa MMB, editors. Tópicos em gastroenterologia: deglutição e disfagia. Rio de Janeiro: Medsi; 2000. p. 71–82.

    Google Scholar 

  • Marques IL, Barbieri MA, Bettiol H. Etiopathogenesis of isolated Robin sequence. Cleft Palate Craniofac J. 1998;35:517–25.

    Article  CAS  PubMed  Google Scholar 

  • Marques IL, de Sousa TV, Carneiro AF, Barbieri MA, Bettiol H, Gutierrez MR. Clinical experience with infants with Robin sequence: a prospective study. Cleft Palate Craniofac J. 2001;38:171–8.

    Article  CAS  PubMed  Google Scholar 

  • Marques IL, Peres SP, Bettiol H, Barbieri MA, Andrea M, Souza L. Growth of children with isolated Robin sequence treated by nasopharyngeal intubation: importance of a hypercaloric diet. Cleft Palate Craniofac. 2004;41:53–8.

    Article  Google Scholar 

  • Marques IL, Souza TV, Carneiro AF, Peres SP, Barbieri MA, Bettiol H. Seqüência de Robin-Protocolo único de tratamento. J Pediatr. 2005;81:14–22.

    Article  Google Scholar 

  • Marques IL, Prado-Oliveira R, Leirião VH, Jorge JC, Souza L. Clinical and fiberoptic endoscopic evaluation of swallowing in Robin sequence treated with nasopharyngeal intubation. The importance of feeding facilitating techniques. Cleft Palate-Craniofac J. 2010;47(5):523–9.

    Article  PubMed  Google Scholar 

  • Monasterio FO, Molina F, Berlanga F, Lopez ME, Ahumada H, Takenaga RH. Swallowing disorders in Pierre Robin sequence: its correction by distraction. J Craniofac Surg. 2004;15(6):934–41.

    Article  PubMed  Google Scholar 

  • Nassar E, Marques IL, Trindade AS Jr, Bettiol H. Feeding–facilitating techniques for the nursing infant with Pierre Robin sequence. Cleft Palate Craniofac J. 2006;43:55–60.

    Article  PubMed  Google Scholar 

  • Printzlau A, Andersen M. Pierre Robin sequence in Denmark: aretrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41(1):47–52.

    Article  PubMed  Google Scholar 

  • Rogers GF, Lim AA, Mulliken JB, Padwa BL. Effect of a syndromic diagnosis on mandibular size and sagittal position in Robin sequence. J Oral Maxillofac Surg. 2009;67(11):2323–31.

    Article  PubMed  Google Scholar 

  • Rogers GF, Murthy AS, LaBrie RA, Mulliken JB. The GILLS score: part I. Patient selection for tongue-lip adhesion in Robin sequence. Plast Reconstr Surg. 2011;128(1):243–51.

    Article  CAS  PubMed  Google Scholar 

  • Salmen ICM. Sequencia de Robin: estudo retrospective dos lactentes internados no HRAC-USP [dissertação]. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo; 2011.

    Google Scholar 

  • Scott AR, Tibesar RJ, Sidman JD. Pierre Robin sequence: evaluation, management, indications for surgery, and pitfalls. Otolaryngol Clin N Am. 2012;45(3):695–710.

    Article  Google Scholar 

  • Sher AE. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac J. 1992;29(3):224–31.

    Article  CAS  PubMed  Google Scholar 

  • Sher AE, Shprintzen RJ, Thorpy MJ. Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: predictive and therapeutic value. Int J Pediatr Otorhinolaryngol. 1986;11(2):135–46.

    Article  CAS  PubMed  Google Scholar 

  • Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992;29(3):205–9.

    Article  CAS  PubMed  Google Scholar 

  • Singer L, Sidoti EG. Pediatric management of Robin sequence. Cleft Palate Craniofac J. 1992;29:220–3.

    Article  CAS  PubMed  Google Scholar 

  • Society AT. Cardiorespiratory sleep studies in children. Establishment of normative data and polysomnographic predictors of morbidity. American Thoracic Society. Am J Respir Crit Care Med. 1999;160(4):1381–7.

    Article  Google Scholar 

  • de Sousa TV, Marques IL, Carneiro AF, Bettiol H, Freitas JA. Nasopharyngoscopy in Robin sequence: clinical and predictive value. Cleft Palate Craniofac J. 2003;40(6):618–23.

    Article  PubMed  Google Scholar 

  • Souza TV, Marques IL, Carneiro AF, Bettiol H, Freitas JA. Nasopharyngoscopy in Robin sequence: clinical and predictive value. Cleft Palate Craniofac J. 2003;40(6):618–23.

    Article  Google Scholar 

  • Spina V, Psillakis JM, Lapa FS, Ferreira MC. Classification of cleft lip and cleft palate. Suggested changes. Rev Hosp Clin Fac Med Sao Paulo. 1972;27(1):5–6.

    CAS  PubMed  Google Scholar 

  • Vandenplas Y, Goyvaerts H, Helven R, Sacre L. Gastroesophageal reflux, as measured by 24-hour pH monitoring, in 509 healthy infants screened for risk of sudden infant death syndrome. Pediatrics. 1991;88(4):834–40.

    CAS  PubMed  Google Scholar 

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Correspondence to Nivaldo Alonso M.D., Ph.D. .

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Alonso, N., Tonello, C., Marques, I.L., Carpes, A.F., Maricevich, M., Maricevich, R. (2018). Robin Sequence. In: Alonso, N., Raposo-Amaral, C. (eds) Cleft Lip and Palate Treatment. Springer, Cham. https://doi.org/10.1007/978-3-319-63290-2_15

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  • DOI: https://doi.org/10.1007/978-3-319-63290-2_15

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