eMedicine Specialties > Pediatrics: Surgery > Otolaryngology

Pierre Robin Malformation: Multimedia

Author: Marie M Tolarova, MD, PhD, DSc, Professor and Executive Director, UOP Craniofacial Team, Cleft Prevention Program, Department of Orthodontics, University of the Pacific School of Dentistry
Contributor Information and Disclosures

Updated: Mar 25, 2009

Multimedia

Three-week-old baby boy affected with nonsyndromi...Media file 1: Three-week-old baby boy affected with nonsyndromic Robin sequence.
Three-week-old baby boy affected with nonsyndromi...

Three-week-old baby boy affected with nonsyndromic Robin sequence.

One-month-old baby affected with nonsyndromic Rob...Media file 2: One-month-old baby affected with nonsyndromic Robin sequence.
One-month-old baby affected with nonsyndromic Rob...

One-month-old baby affected with nonsyndromic Robin sequence.

Patient from Media file 2 at age 4 years. The pro...Media file 3: Patient from Media file 2 at age 4 years. The profile is almost normal because of catch-up growth.
Patient from Media file 2 at age 4 years. The pro...

Patient from Media file 2 at age 4 years. The profile is almost normal because of catch-up growth.

Patient from Media file 2.Media file 4: Patient from Media file 2.
Patient from Media file 2.

Patient from Media file 2.

U-shaped and V-shaped cleft palates.Media file 5: U-shaped and V-shaped cleft palates.
U-shaped and V-shaped cleft palates.

U-shaped and V-shaped cleft palates.

Eight-year-old boy with Stickler syndrome. Note a...Media file 6: Eight-year-old boy with Stickler syndrome. Note a flat, hypotonic face and small mandible. He also has a U-shaped, wide cleft palate (CP). His mandible does not show catch-up growth. He is a mouth-breather and snores. He is using his CP as an airway. A closing of the CP without preparation would compromise his airway passage. The authors recommend placement of an obturator (perhaps with a speech bulb) for a couple of hours a day at first and gradually increasing the time. After a few months, when the child will have changed his breathing pattern, the palate can be closed.
Eight-year-old boy with Stickler syndrome. Note a...

Eight-year-old boy with Stickler syndrome. Note a flat, hypotonic face and small mandible. He also has a U-shaped, wide cleft palate (CP). His mandible does not show catch-up growth. He is a mouth-breather and snores. He is using his CP as an airway. A closing of the CP without preparation would compromise his airway passage. The authors recommend placement of an obturator (perhaps with a speech bulb) for a couple of hours a day at first and gradually increasing the time. After a few months, when the child will have changed his breathing pattern, the palate can be closed.

Eight-year-old boy with Stickler syndrome from th...Media file 7: Eight-year-old boy with Stickler syndrome from the previous picture. Note a flat, hypotonic face and a small mandible. His mandible does not show catch-up growth.
Eight-year-old boy with Stickler syndrome from th...

Eight-year-old boy with Stickler syndrome from the previous picture. Note a flat, hypotonic face and a small mandible. His mandible does not show catch-up growth.

Eight-year-old boy with Stickler syndrome from pr...Media file 8: Eight-year-old boy with Stickler syndrome from previous 2 pictures. Note a U-shaped, wide cleft palate.
Eight-year-old boy with Stickler syndrome from pr...

Eight-year-old boy with Stickler syndrome from previous 2 pictures. Note a U-shaped, wide cleft palate.

Robin sequence in some recognized and unrecognize...Media file 9: Robin sequence in some recognized and unrecognized syndromes.
Robin sequence in some recognized and unrecognize...

Robin sequence in some recognized and unrecognized syndromes.

Robin sequence and complexes.Media file 10: Robin sequence and complexes.
Robin sequence and complexes.

Robin sequence and complexes.

Robin sequences and complexes.Media file 11: Robin sequences and complexes.
Robin sequences and complexes.

Robin sequences and complexes.

Child with Pierre Robin Sequence prior to distrac...Media file 12: Child with Pierre Robin Sequence prior to distraction osteogenesis.
Child with Pierre Robin Sequence prior to distrac...

Child with Pierre Robin Sequence prior to distraction osteogenesis.

Distraction osteogenesis is completed, and the bo...Media file 13: Distraction osteogenesis is completed, and the bone is consolidating.
Distraction osteogenesis is completed, and the bo...

Distraction osteogenesis is completed, and the bone is consolidating.

More on Pierre Robin Malformation

Overview: Pierre Robin Malformation
Differential Diagnoses & Workup: Pierre Robin Malformation
Treatment & Medication: Pierre Robin Malformation
Follow-up: Pierre Robin Malformation
Multimedia: Pierre Robin Malformation
References

References

  1. Pruzansky S. Not all dwarfed mandibles are alike. Birth Defects. 1969;5(2):120-9.

  2. Cole A, Lynch P, Slator R. A new grading of Pierre Robin sequence. Cleft Palate Craniofac J. Nov 2008;45(6):603-6. [Medline].

  3. Olasoji HO, Ambe PJ, Adesina OA. Pierre Robin syndrome: an update. Niger Postgrad Med J. Jun 2007;14(2):140-5. [Medline].

  4. Shprintzen RJ. The implications of the diagnosis of Robin sequence. Cleft Palate Craniofac J. 1992;29:205-209. [Medline].

  5. Robin P. La chute de la base de la langue consideree comme une nouvelle cause de gene dans la respiration naso-pharyngienne. Bull Acad Med Paris. 1923;89:37-41.

  6. Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. Am J Dis Child. 1934;48:541-547.

  7. Beighton P, Beighton G. The Man Behind Syndrome. Springer-Verlag, Berlin: 1986.

  8. Marques IL, Barbieri MA, Bettiol H. Etiopathogenesis of isolated Robin sequence. Cleft Palate Craniofac J. Nov 1998;35(6):517-25. [Medline].

  9. Holder-Espinasse M, Abadie V, Cormier-Daire V, et al. Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr. Oct 2001;139(4):588-90. [Medline].

  10. Jakobsen LP, Knudsen MA, Lespinasse J, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. Mar 2006;43(2):155-9. [Medline].

  11. Melkoniemi M, Koillinen H, Mannikko M, et al. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet. Mar 2003;11(3):265-70. [Medline].

  12. Jakobsen LP, Ullmann R, Christensen SB, et al. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. Jun 2007;44(6):381-6. [Medline].

  13. Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. Mar 2009;41(3):359-64. [Medline].

  14. Hanson JW, Smith DW. U-shaped palatal defect in the Robin anomalad: developmental and clinical relevance. J Pediatr. Jul 1975;87(1):30-33. [Medline].

  15. Williams AJ, Williams MA, Walker CA, Bush PG. The Robin anomalad (Pierre Robin syndrome) - a follow-up study. Arch Dis Child. 1981;45:663-668. [Medline].

  16. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardio-facial syndrome: A clinical and genetic analysis. Pediatrics. 1981;67:167-172. [Medline].

  17. Cohen MM Jr. The Child with Multiple Birth Defects,. 2nd ed. New York, NY: Oxford University; 1997.

  18. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck,. 4th ed. New York, NY: Oxford University; 2001.

  19. Sheffield LJ, Reiss JA, Strohm K, Gilding M. A genetic follow-up study of 64 patients with the Pierre Robin complex. Amer J Med Genet. 1987;28:25-36. [Medline].

  20. Sher AE. Mechanisms of airway obstruction in Robin sequence: Implications for treatment. Cleft Palate Craniofac J. 1992;29:224-231. [Medline].

  21. Cohen MM Jr. Dysmorphology, syndromology, and genetics in plastic surgery. In: McCarthy JG, ed. Plastic Surgery. WB Saunders: Philadelphia, PA; 1990:69-112.

  22. Harding CO, Green CG, Perloff WH, Pauli RM. Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Pediatr Pulmonol. 1990;9:49-54. [Medline].

  23. Kreiborg S, Cohen MM Jr. Syndrome delineation and growth in orofacial clefting and craniosynostosis. In: Turvey TA, Vig KWL, Fonseca RJ, eds. Facial Clefts and Craniosynostosis. Principles and Management. Philadelphia, PA: WB Saunders; 1996:57-75.

  24. Poswillo D. The aetiology and surgery of cleft palate with micrognathia. Ann R Coll Surg Engl. 1968;43(2):61-88. [Medline].

  25. Bush PG, Williams AJ. Incidence of the Robin anomalad (Pierre Robin syndrome). Br J Plast Surg. 1983;36:434-437. [Medline].

  26. Shprintzen RJ. Pierre Robin, micrognathia, and airway obstruction: The dependency of treatment on accurate diagnosis. Int Anesthesiol Clin. 1988;26:64-71. [Medline].

  27. Tolarova MM, Cervenka J. Classification and birth prevalence of orofacial clefts. Amer J Med Genet. 1998;75:126-137. [Medline][Full Text].

  28. Smith JW, Stowe WR. The Pierre Robin syndrome (glossoptosis, micrognathia, cleft palate). A review of 39 cases with emphasis on associated ocular lesions. Pediatrics. 1961;27:128-33.

  29. Bixler D, Christian JC. Pierre Robin syndrome occurring in two unrelated sibships. Birth Defects Orig Art Ser. 1971;VII(7):67-71.

  30. Shah CV, Pruzansky S, Harris WS. Cardiac malformations with facial clefts; with observations on the Pierre Robin syndrome. Am J Dis Child. Mar 1970;119(3):238-44. [Medline].

  31. Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: WB Saunders; 2005.

  32. Cohen MM Jr. Editorial comment. Robin sequences and complexes. Causal heterogeneity and pathogenetic/phenotypic variability. Amer J Med Genet. 1999;84:311-315. [Medline][Full Text].

  33. Cohen MM Jr. Etiology and pathogenesis of orofacial clefting. Oral and Maxillofacial Surgery Clinics of North America. 2000;12(3):379-97.

  34. Lee JH, Kim YH. Temporary tongue-lip traction during the initial period of mandibular distraction in Pierre Robin sequence. Cleft Palate Craniofac J. Jan 2009;46(1):19-23. [Medline].

  35. Sidman JD, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001;111:1137-1146. [Medline].

  36. Dauria D, Marsh JL. Mandibular distraction osteogenesis for Pierre Robin sequence: what percentage of neonates need it?. J Craniofac Surg. Sep 2008;19(5):1237-43. [Medline].

  37. St-Hilaire H, Buchbinder D. Maxillofacial pathology and management of Pierre Robin sequence. Otolaryngol Clin of North Am. Dec 2000;33(6):1241-1256. [Medline].

  38. Lehman JA, Fishman JRA, Neiman GS. Treatment of cleft palate associated with Robin sequence: Appraisal of risk factors. Cleft Palate Craniofac J. 1995;32:25-29. [Medline].

  39. McCarthy JG, Schreiber J, Karp N, et al. Lengthening of the human mandible by gradual distraction. Plast Reconstr Surg. 1992;89:1-8. [Medline].

  40. Cohen SR, Simms C, Burstein FD. Mandibular distraction osteogenesis in the treatment of upper airway obstruction in children with craniofacial anomalies. Plast Reconstr Surg. 1998;101:312-318. [Medline].

  41. Smith MC, Senders CW. Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. Feb 2006;70(2):319-24. [Medline].

  42. Witt PD, Myckatyn T, Marsh JL, et al. Need for velopharyngeal management following palatoplasty: An outcome analysis of syndromic and nonsyndromic patients with Robin sequence. Plast Reconstr Surg. 1997;99:1522-1529. [Medline].

  43. Berger JC, Clericuzio CL. Pierre Robin sequence associated with first trimester fetal tamoxifen exposure. Am J Med Genet A. Aug 15 2008;146A(16):2141-4. [Medline].

  44. Breugem CC, Mink van der Molen AB. What is 'Pierre Robin sequence'?. J Plast Reconstr Aesthet Surg. Oct 31 2008;[Medline].

  45. Demke J, Bassim M, Patel MR, et al. Parental perceptions and morbidity: tracheostomy and Pierre Robin sequence. Int J Pediatr Otorhinolaryngol. Oct 2008;72(10):1509-16. [Medline].

  46. Houdayer C, Portnoi MF, Vialard F, et al. Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. Am J Med Genet. Aug 15 2001;102(3):219-226. [Medline].

  47. Mahmood A, Sharif MA, Malik IB, Saeed S, Murtaza B. Pierre robin sequence as birth asphyxia in a new born. J Coll Physicians Surg Pak. Sep 2008;18(9):581-3. [Medline].

  48. Meyer AC, Lidsky ME, Sampson DE, Lander TA, Liu M, Sidman JD. Airway interventions in children with Pierre Robin Sequence. Otolaryngol Head Neck Surg. Jun 2008;138(6):782-7. [Medline].

  49. Palit G, Jacquemyn Y, Kerremans M. An objective measurement to diagnose micrognathia on prenatal ultrasound. Clin Exp Obstet Gynecol. 2008;35(2):121-3. [Medline].

  50. Weintraub AS, Holzman IR. Neonatal care of infants with head and neck anomalies. Otolaryngol Clin North Am. Dec 2000;33(6):1171-89, v. [Medline].

Further Reading

Keywords

Pierre Robin malformation, Pierre Robin syndrome, Robin sequence, Pierre Robin anomalad, Robin complexes, Pierre Robin malformation complex, syndromic Robin sequence, nonsyndromic Robin sequence, Velocardiofacial syndrome, Stickler syndrome, Stickler's syndrome, autosomal dominant Stickler syndrome, Treacher Collins syndrome, Nager syndrome, spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia congenita, SED, cleft palate, CP, connective tissue dysplasia, 22q11.2 deletion syndrome, spondyloepiphyseal dysplasia congenita, respiratory distress, micrognathia, glossoptosis, oligohydramnios, treatment, diagnosis, orofacial cleft, hypoxia, cor pulmonale, failure to thrive, cerebral impairment

Contributor Information and Disclosures

Author

Marie M Tolarova, MD, PhD, DSc, Professor and Executive Director, UOP Craniofacial Team, Cleft Prevention Program, Department of Orthodontics, University of the Pacific School of Dentistry
Marie M Tolarova, MD, PhD, DSc is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American Society of Human Genetics, and International Association for Dental Research
Disclosure: Nothing to disclose.

Medical Editor

Orval Brown, MD, Director of Otolaryngology Clinic, Professor, Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas
Orval Brown, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Bronchoesophagological Association, American College of Surgeons, American Medical Association, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Society of University Otolaryngologists-Head and Neck Surgeons
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Alan D Murray, MD, Pediatric Otolaryngologist, ENT for Children; Full-Time Staff, Medical City Dallas Children's Hospital; Consulting Staff, Department of Otolaryngology, Medical Center of Lewisville, Children's Medical Center at Dallas, Cook Children's Medical Center; Full-Time Staff, Texas Pediatric Surgery Center, The Pediatric Surgery Center
Alan D Murray, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American College of Surgeons, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Glenn C Isaacson, MD, FACS, FAAP, Professor of Otolaryngology-Head and Neck Surgery and Pediatrics, Temple University School of Medicine
Glenn C Isaacson, MD, FACS, FAAP is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Bronchoesophagological Association, American College of Surgeons, American Laryngological Rhinological and Otological Society, American Society of Pediatric Otolaryngology, and Society of University Otolaryngologists-Head and Neck Surgeons
Disclosure: Covidien Honoraria Consulting

RELATED EMEDICINE ARTICLES
 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.