pierre robin syndrome

Summary

Summary: Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.

Top Publications

  1. Smith M, Senders C. Prognosis of airway obstruction and feeding difficulty in the Robin sequence. Int J Pediatr Otorhinolaryngol. 2006;70:319-24 pubmed
    ..To evaluate the course and prognosis of airway obstruction and feeding difficulty in the Pierre Robin sequence (PRS)...
  2. Denny A, Amm C. New technique for airway correction in neonates with severe Pierre Robin sequence. J Pediatr. 2005;147:97-101 pubmed
    ..We conclude that distraction osteogenesis to increase the length of the short mandible is an effective alternative to tracheostomy in carefully selected patients...
  3. van den Elzen A, Semmekrot B, Bongers E, Huygen P, Marres H. Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. Eur J Pediatr. 2001;160:47-53 pubmed
    ..Tracheostomy was performed in three children from group 1 and two from group 2. Feeding problems occurred in about 25% of all PRS patients and stunted growth was seen especially in boys with isolated PRS before the age of 10 months...
  4. Dauria D, Marsh J. Mandibular distraction osteogenesis for Pierre Robin sequence: what percentage of neonates need it?. J Craniofac Surg. 2008;19:1237-43 pubmed publisher
    ..Mandibular distraction osteogenesis is an effective treatment to avoid tracheotomy in carefully selected Pierre Robin sequence neonates...
  5. Meyer A, Lidsky M, Sampson D, Lander T, Liu M, Sidman J. Airway interventions in children with Pierre Robin Sequence. Otolaryngol Head Neck Surg. 2008;138:782-7 pubmed publisher
    ..To describe the interventions required for successful airway management in children with Pierre Robin Sequence (PRS)...
  6. Semjen F, Bordes M, Cros A. Intubation of infants with Pierre Robin syndrome: the use of the paraglossal approach combined with a gum-elastic bougie in six consecutive cases. Anaesthesia. 2008;63:147-50 pubmed publisher
    Infants with Pierre Robin syndrome are known to be difficult to intubate. We evaluated the paraglossal approach combined with a gum elastic bougie for intubation of these infants...
  7. Iatrou I, Theologie Lygidakis N, Schoinohoriti O. "Mandibular distraction osteogenesis for severe airway obstruction in Robin Sequence. Case report". J Craniomaxillofac Surg. 2010;38:431-5 pubmed publisher
    ..No significant scarring occurred at the surgical site and the patient has normal respiratory and feeding function...
  8. Bütow K, Hoogendijk C, Zwahlen R. Pierre Robin sequence: appearances and 25 years of experience with an innovative treatment protocol. J Pediatr Surg. 2009;44:2112-8 pubmed publisher
    ..The aim of the study was to evaluate the largest number of Pierre Robin sequence (PRS) cases to date and its treatment outcome...
  9. Genecov D, Barcelo C, Steinberg D, Trone T, Sperry E. Clinical experience with the application of distraction osteogenesis for airway obstruction. J Craniofac Surg. 2009;20 Suppl 2:1817-21 pubmed publisher
    ..They all met the criteria for a multidisciplinary team evaluation consisting of upper airway endoscopy, swallowing evaluations, standard overnight polysomnography, and radiologic evaluations of the airway and craniofacial structures...

More Information

Publications85

  1. Benko S, Fantes J, Amiel J, Kleinjan D, Thomas S, Ramsay J, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009;41:359-64 pubmed publisher
    ..Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements...
  2. Burstein F. Resorbable distraction of the mandible: technical evolution and clinical experience. J Craniofac Surg. 2008;19:637-43 pubmed publisher
  3. Saxena K, Nischal H, Bhardwaj M, Gaba P, Shastry B. Right molar approach to tracheal intubation in a child with Pierre Robin syndrome, cleft palate, and tongue tie. Br J Anaesth. 2008;100:141-2 pubmed
  4. Jakobsen L, Ullmann R, Christensen S, Jensen K, Mølsted K, Henriksen K, et al. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007;44:381-6 pubmed
  5. Schubert J, Jahn H, Berginski M. Experimental aspects of the pathogenesis of Robin sequence. Cleft Palate Craniofac J. 2005;42:372-6 pubmed
    ..Discussion continues regarding which of the involved pathogenetic factors is the primary cause of the induced cascade of signs: insufficient mandibular growth or failed descent of the tongue...
  6. Burstein F, Williams J. Mandibular distraction osteogenesis in Pierre Robin sequence: application of a new internal single-stage resorbable device. Plast Reconstr Surg. 2005;115:61-7; discussion 68-9 pubmed
    ..The final tracheostomy status in one patient will be determined after surgery for gastroesophageal reflux. There were no major complications and no structural device failures...
  7. Dell oste C, Savron F, Pelizzo G, Sarti A. Acute airway obstruction in an infant with Pierre Robin syndrome after palatoplasty. Acta Anaesthesiol Scand. 2004;48:787-9 pubmed
    ..cleft palate repair, which resulted in a life-threatening airway obstruction in an infant with Pierre Robin syndrome. Although infants experiencing airway problems after Wardill-Kilner, von Langenbeck and Furlow ..
  8. Printzlau A, Andersen M. Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47-52 pubmed
  9. Hoffman W. Outcome of tongue-lip plication in patients with severe Pierre Robin sequence. J Craniofac Surg. 2003;14:602-8 pubmed
  10. Daskalogiannakis J, Ross R, Tompson B. The mandibular catch-up growth controversy in Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 2001;120:280-5 pubmed
    ..We conclude that patients with Pierre Robin sequence have a significantly smaller mandible as compared with patients with isolated cleft palate, and the difference does not change after the age of 5 years...
  11. Holder Espinasse M, Abadie V, Cormier Daire V, Beyler C, Manach Y, Munnich A, et al. Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr. 2001;139:588-90 pubmed
    ..In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses...
  12. Villani S, Brevi B, Sesenna E. [Distraction osteogenesis in a newborn infant with Pierre-Robin sequence]. Mund Kiefer Gesichtschir. 2002;6:197-201 pubmed
    ..Distraction osteogenesis was recently introduced as a very promising procedure. We revised this concept for newborn children aged up to 3 months...
  13. Gripp K, Hopkins E, Johnston J, Krause C, Dobyns W, Biesecker L. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011;155A:2516-20 pubmed publisher
    ..Atrial flutter required recurrent ablation of intra-atrial re-entry pathways. The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. ..
  14. Suri S, Ross R, Tompson B. Craniofacial morphology and adolescent facial growth in Pierre Robin sequence. Am J Orthod Dentofacial Orthop. 2010;137:763-74 pubmed publisher
    ..The research was conducted at the Center for Craniofacial Care and Research at The Hospital for Sick Children, Toronto, Ontario, Canada, and the Burlington Facial Growth Research Center, Faculty of Dentistry, University of Toronto...
  15. Johnston J, Teer J, Cherukuri P, Hansen N, Loftus S, Chong K, et al. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010;86:743-8 pubmed publisher
    ..We conclude that massively parallel sequencing is useful to characterize large candidate linkage intervals and that it can be used successfully to allow identification of disease-causing gene mutations...
  16. Breugem C, Courtemanche D. Robin sequence: clearing nosologic confusion. Cleft Palate Craniofac J. 2010;47:197-200 pubmed publisher
    ..This has implications for evaluating Robin sequence, giving advice about the prognosis and genetic counseling, and refining treatment options. ..
  17. Bijnen C, Don Griot P, Mulder W, Haumann T, Van Hagen A. Tongue-lip adhesion in the treatment of Pierre Robin sequence. J Craniofac Surg. 2009;20:315-20 pubmed publisher
    ..If conservative treatment is not sufficient, a surgical procedure such as a tongue-lip adhesion can be performed. The objective of this study was to evaluate our benefits and complications with this operation...
  18. Sidman J, Sampson D, Templeton B. Distraction osteogenesis of the mandible for airway obstruction in children. Laryngoscope. 2001;111:1137-46 pubmed
  19. Cole A, Lynch P, Slator R. A new grading of Pierre Robin sequence. Cleft Palate Craniofac J. 2008;45:603-6 pubmed publisher
    ..A system of classifying babies with PRS based on the severity of their symptoms and signs and treatment required was therefore devised and is described in this paper...
  20. Abadie V, Morisseau Durand M, Beyler C, Manach Y, Couly G. Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. Eur J Pediatr. 2002;161:275-80 pubmed
    ..Specific anomalies of oesophageal motility, pharyngolaryngeal tone and parasympathetic cardiac regulation were described. These anomalies were more frequent in children with the two higher grades of functional severity...
  21. Molnár S, Szappanos L, Körmendi Z, Veres R. Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report. Spine (Phila Pa 1976). 2007;32:E501-4 pubmed
    ..Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity...
  22. Ozkan K, Coban Y, Uzel M, Ergun M, Oksuz H. Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. Cleft Palate Craniofac J. 2006;43:317-20 pubmed
    ..The association of congenital radioulnar synostosis and esophageal atresia with Pierre Robin sequence has not been previously described...
  23. Jakobsen L, Knudsen M, Lespinasse J, García Ayuso C, Ramos C, Fryns J, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. 2006;43:155-9 pubmed
    ..Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS...
  24. Evans A, Rahbar R, Rogers G, Mulliken J, Volk M. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol. 2006;70:973-80 pubmed
  25. Schaefer R, Stadler J, Gosain A. To distract or not to distract: an algorithm for airway management in isolated Pierre Robin sequence. Plast Reconstr Surg. 2004;113:1113-25 pubmed
    ..Mandibular distraction may be one of several modalities required to avoid tracheostomy for such patients...
  26. Glynn F, Fitzgerald D, Earley M, Rowley H. Pierre Robin sequence: an institutional experience in the multidisciplinary management of airway, feeding and serous otitis media challenges. Int J Pediatr Otorhinolaryngol. 2011;75:1152-5 pubmed publisher
    ..To evaluate the course and prognosis of airway obstruction, feeding difficulties and hearing abnormalities in patients with Pierre Robin sequence (PRS)...
  27. Murage K, Tholpady S, Friel M, Havlik R, Flores R. Outcomes analysis of mandibular distraction osteogenesis for the treatment of Pierre Robin sequence. Plast Reconstr Surg. 2013;132:419-21 pubmed publisher
    ..The absence of a cleft palate, gastroesophageal reflux disease, and need for Nissen fundoplication were associated with failure of distraction. Therapeutic, IV. ..
  28. Monasterio F, Drucker M, Molina F, Ysunza A. Distraction osteogenesis in Pierre Robin sequence and related respiratory problems in children. J Craniofac Surg. 2002;13:79-83; discussion 84 pubmed
    ..Mandibular distraction is a safe and reliable procedure for treating patients with obstructive sleep apnea. ..
  29. Reid J, Kilpatrick N, Reilly S. A prospective, longitudinal study of feeding skills in a cohort of babies with cleft conditions. Cleft Palate Craniofac J. 2006;43:702-9 pubmed
    ..Poor feeding skills are relatively common in newborns with cleft palate and cleft lip and palate. Treatment for feeding problems may be needed beyond the first year of life, especially for babies born with PRS or a syndrome. ..
  30. Karp J, Ganoza G. Dental trauma after cardiac syncope in a patient with long QT syndrome. Pediatr Dent. 2006;28:547-52 pubmed
  31. Matsumoto M, Yanagihara T, Hanaoka U, Maesato T, Kuno A, Yamashiro C, et al. Antenatal three-dimensional sonographic features of Pierre-Robin syndrome. Case report. Gynecol Obstet Invest. 2001;51:141-2 pubmed
    ..Three-dimensional sonography clearly showed fetal micrognathia and hypoplastic ear antenatally. The benefits and advantages of the use of three-dimensional sonography to diagnose Pierre-Robin syndrome in utero are discussed. ..
  32. Goudy S, Ingraham C, Canady J. The occurrence of velopharyngeal insufficiency in Pierre Robin Sequence patients. Int J Pediatr Otorhinolaryngol. 2011;75:1252-4 pubmed publisher
    ..Our findings suggest that children born with a Pierre-Robin Sequence do not have a higher rate of post-operative VPI after cleft palate repair and are no more likely to require additional surgical intervention. ..
  33. Asai T, Nagata A, Shingu K. Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction. Paediatr Anaesth. 2008;18:77-80 pubmed
    ..Awake insertion of the laryngeal mask solved this problem. A 1-month-old neonate with Pierre Robin syndrome and another with Treacher-Collins syndrome were scheduled for surgical fixation of the tongue to the ..
  34. Al Zubeidi D, Rahhal R. Safety techniques for percutaneous endoscopic gastrostomy tube placement in Pierre Robin Sequence. JPEN J Parenter Enteral Nutr. 2011;35:343-5 pubmed publisher
    ..The authors describe a case of an infant with PRS who underwent successful PEG tube placement without complications, and they highlight certain techniques to improve procedure success and patient safety. ..
  35. Palit G, Jacquemyn Y, Kerremans M. An objective measurement to diagnose micrognathia on prenatal ultrasound. Clin Exp Obstet Gynecol. 2008;35:121-3 pubmed
    ..The values were compared with four cases of proven Pierre Robin syndrome. The frontal naso-mental angle is not dependent on gestational age, the mean value is 146...
  36. Kieny J, Stoll C, Roul G, Hessel F, Bareiss P, Sacrez A. [Familial polymorph ventricular extrasystole associated with Pierre Robin syndrome]. Arch Mal Coeur Vaiss. 1992;85:1559-62 pubmed
    ..Five persons had suffered syncopes. All had a facial abnormality: one woman had a complete Pierre Robin syndrome with mandibular hypoplasia, glossoptos and cleft palate; in the other cases, minor forms were observed, ..
  37. Elluru R. Treatment options for severe upper airway obstruction in pierre-robin sequence. J Pediatr. 2005;147:7-9 pubmed
  38. Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W. c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. Am J Med Genet A. 2010;152A:737-40 pubmed publisher
    ..Mutation analysis of FOXC2 revealed c. 595-596 insC...
  39. Miguel H, Carneiro C, Tabith A, Zechi Ceide R, Genaro K. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. Am J Med Genet A. 2012;158A:1967-70 pubmed publisher
    ..The 17 individuals examined had the typical laryngeal anomalies and vocal disorders previously described. The new findings are the laryngeal microweb observed in three cases and arytenoid anteriorization movement observed in 14 cases. ..
  40. Marques I, de Sousa T, Carneiro A, Peres S, Barbieri M, Bettiol H. [Robin sequence: a single treatment protocol]. J Pediatr (Rio J). 2005;81:14-22 pubmed
  41. Jamshidi N, Macciocca I, Dargaville P, Thomas P, Kilpatrick N, McKinlay Gardner R, et al. Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. J Med Genet. 2004;41:e1 pubmed
  42. van Lieshout M, Joosten K, Hoeve H, Mathijssen I, Koudstaal M, Wolvius E. Unravelling Robin sequence: considerations of diagnosis and treatment. Laryngoscope. 2014;124:E203-9 pubmed publisher
    ..About one-third of all Robin sequence children needed respiratory support in the neonatal and/or infant period. However, in childhood, only 10% of the total Robin sequence cohort was still dependent on respiratory support. ..
  43. Pradel W, Lauer G, Dinger J, Eckelt U. Mandibular traction--an alternative treatment in infants with Pierre Robin sequence. J Oral Maxillofac Surg. 2009;67:2232-7 pubmed publisher
    ..Surgical therapy using mandibular traction is a minimally invasive alternative to more invasive procedures because no serious complications such as scars or damage to the nerves were encountered. ..
  44. Oktay H, Baydaş B, Ersoz M. Using a modified nutrition plate for early intervention in a newborn infant with Pierre Robin sequence: A case report. Cleft Palate Craniofac J. 2006;43:370-3 pubmed
    ..This case report describes a modified nutrition plate and a baby treated using this appliance. ..
  45. Silvas E, Rypens F, Jovanovic M, Delezoide A, Patey N. Prenatal diagnosis of femoral-facial syndrome: report of two cases. Birth Defects Res A Clin Mol Teratol. 2013;97:770-3 pubmed publisher
  46. Aypar E, Sert A, Gokmen Z, Aslan E, Odabas D. Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. Pediatr Cardiol. 2013;34:452-4 pubmed publisher
    ..Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients. ..
  47. Matsas R, Thomson A, Goodacre T. Management of infants with Pierre Robin sequence. Cleft Palate Craniofac J. 2004;41:219 pubmed
  48. Abramowicz S, Bacic J, Mulliken J, Rogers G. Validation of the GILLS score for tongue-lip adhesion in Robin sequence patients. J Craniofac Surg. 2012;23:382-6 pubmed publisher
    ..Infants with a GILLS score of 3 or greater were 5 times more likely to fail TLA than those with a score of 2 or less. In these patients, other methods of managing the airway should be considered. ..
  49. Whitaker I, Koron S, Oliver D, Jani P. Effective management of the airway in the Pierre Robin syndrome using a modified nasopharyngeal tube and pulse oximetry. Br J Oral Maxillofac Surg. 2003;41:272-4 pubmed
    b>Pierre Robin syndrome is a rare condition, first described by the French stomatologist, Pierre Robin in 1923. The severity of the syndrome varies widely, and associated upper airway obstruction is the most difficult problem to overcome...
  50. Krimmel M, Kluba S, Breidt M, Bacher M, Dietz K, Buelthoff H, et al. Three-dimensional assessment of facial development in children with Pierre Robin sequence. J Craniofac Surg. 2009;20:2055-60 pubmed publisher
    ..This indicates that children with PRS have a very early, severe, and persistent underdevelopment of this part of the face. We conclude that this disturbance must be addressed in early childhood with orthodontic and speech therapy...
  51. Kovatsis P, Fiadjoe J, Stricker P. Simple, reliable replacement of pilot balloons for a variety of clinical situations. Paediatr Anaesth. 2010;20:490-4 pubmed publisher
    ..Equipment such as intravenous catheters or epidural clamp connectors provides reliable, light weight, and streamlined substitutions for pilot balloons when connected to the pilot-cuff inflation line...
  52. Ahmed M. Cleft lip and palate care in the United Kingdom--the Clinical Standards Advisory Group (CSAG) study. Cleft Palate Craniofac J. 2002;39:656 pubmed
  53. Pirat A, Candan S, Unlukaplan A, Kömürcü O, Kuşlu S, Arslan G. Percutaneous dilational tracheotomy for airway management in a newborn with Pierre-Robin syndrome and a glossopharyngeal web. Respir Care. 2012;57:627-30 pubmed publisher
    ..By inserting a size 3.0 tracheotomy cannula, PDT was successfully completed in this newborn. This case describes the successful use of PDT for emergency airway management of a newborn with PRS and glossopharyngeal web...
  54. Antunes R, Alonso N, Paula R. Importance of early diagnosis of Stickler syndrome in newborns. J Plast Reconstr Aesthet Surg. 2012;65:1029-34 pubmed publisher
    ..The study aims to investigate a possible correlation between the main clinical and ophthalmological characteristics, age and Robin sequence in patients with the Stickler syndrome...
  55. Takeshita S, Ueda H, Goto T, Muto D, Kakita H, Oshima K, et al. Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation. BMC Anesthesiol. 2017;17:43 pubmed publisher
    ..As such, neonatologists should obtain the skill of fiberoptic intubation. ..
  56. David D, Anderson P, Schnitt D, Nugent M, Sells R. From birth to maturity: a group of patients who have completed their protocol management. Part II. Isolated cleft palate. Plast Reconstr Surg. 2006;117:515-26 pubmed
    ..J.D.) during the 29-year period from 1974 to 2003...
  57. Tan H, Kheirandish Gozal L, Abel F, Gozal D. Craniofacial syndromes and sleep-related breathing disorders. Sleep Med Rev. 2016;27:74-88 pubmed publisher
    ..Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have ..
  58. Soulier M, Sigaudy S, Chau C, Philip N. Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome. Prenat Diagn. 2002;22:567-8 pubmed
    ..Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth...
  59. Selović A. [Ability of a child with Pierre-Robin syndrome to attend school]. Lijec Vjesn. 2002;124:27-9 pubmed
    A boy with Pierre Robin syndrome and his capability to attend elementary school are presented...
  60. Brosch S, Flaig S, Bacher M, Michels L, De Maddalena H, Reinert S, et al. [The influence of the Tübingen soft palate plate and early cleft closure on swallowing and Eustachian tube function in children with Pierre Robin sequence]. HNO. 2006;54:756-60 pubmed
    ..Due to velopharyngeal insufficiency caused by the cleft palate, a high percentage of the children affected also have impaired Eustachian tube function...
  61. Powis Z, Hart A, Cherny S, Petrik I, Palmaer E, Tang S, et al. Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. BMC Med Genet. 2017;18:60 pubmed publisher
    ..The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder. ..
  62. Bacher M, Sautermeister J, Urschitz M, Buchenau W, Arand J, Poets C. An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with Pierre Robin sequence. Cleft Palate Craniofac J. 2011;48:331-6 pubmed publisher
    ..We now investigate safety and long-term effects of this appliance on obstructive sleep apnea in infants with Pierre Robin sequence...
  63. Slator R, RUSSELL J, Bridges M, Tomlinson J, Cole A, Morton J. Understanding cleft lip and palate. 1: an overview. J Fam Health Care. 2009;19:101-3 pubmed
    ..This article, the first in a series, provides a brief overview of the different types of cleft lip and palate and describes the organisation of regional cleft services in England and Wales...
  64. Khan A, Zafar S. Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?. Clin Dysmorphol. 2008;17:187-8 pubmed publisher
  65. Bravo G, Ysunza A, Arrieta J, Pamplona M. Videonasopharyngoscopy is useful for identifying children with Pierre Robin sequence and severe obstructive sleep apnea. Int J Pediatr Otorhinolaryngol. 2005;69:27-33 pubmed
    ..Polysomnography (PS) is the gold standard for the diagnosis of OSAS. Videonasopharyngoscopy (VNP) is the best diagnostic tool for visualizing the vocal tract and detecting structural abnormalities which can be associated with OSAS...
  66. Hermann N, Kreiborg S, Darvann T, Jensen B, Dahl E, Bolund S. Early craniofacial morphology and growth in children with nonsyndromic Robin Sequence. Cleft Palate Craniofac J. 2003;40:131-43 pubmed
    ..Craniofacial morphology and growth comparisons in children with untreated nonsyndromic Robin Sequence (RS) and a control group with unilateral incomplete cleft lip (UICL) in which the lip was surgically closed at 2 months of age...
  67. Marques I, Peres S, Bettiol H, Barbieri M, Andrea M, De Souza L. Growth of children with isolated Robin sequence treated by nasopharyngeal intubation: importance of a hypercaloric diet. Cleft Palate Craniofac J. 2004;41:53-8 pubmed
  68. Hong P, Brake M, Cavanagh J, Bezuhly M, Magit A. Feeding and mandibular distraction osteogenesis in children with Pierre Robin sequence: a case series of functional outcomes. Int J Pediatr Otorhinolaryngol. 2012;76:414-8 pubmed publisher
    ..Many studies have demonstrated the effectiveness in alleviating the airway symptoms with mandibular distraction osteogenesis, but very few studies have focused on feeding and reflux outcomes...
  69. Sohan K, Freer M, Mercer N, Soothill P, Kyle P. Prenatal detection of facial clefts. Fetal Diagn Ther. 2001;16:196-9 pubmed
  70. Vlatten A, Soder C. Airtraq optical laryngoscope intubation in a 5-month-old infant with a difficult airway because of Robin Sequence. Paediatr Anaesth. 2009;19:699-700 pubmed publisher
  71. Marston A, Lander T, Tibesar R, Sidman J. Airway management for intubation in newborns with Pierre Robin sequence. Laryngoscope. 2012;122:1401-4 pubmed publisher
    ..To review airway management in Pierre Robin sequence (PRS) newborns undergoing general anesthesia and to determine if endotracheal intubation is safe in this population...
  72. Longo D, Menchini L, Delfino L, Lozzi S, Seganti G, Diomedi Camassei F, et al. Parapharyngeal neuroglial heterotopia in Pierre Robin sequence: MR imaging findings. Int J Pediatr Otorhinolaryngol. 2009;73:1308-10 pubmed publisher
    ..We report a case of an infant affected by Pierre Robin sequence (PRS) who was admitted to our Institution for a worsening respiratory distress that was not explainable only by PRS...
  73. Frawley G, Espenell A, Howe P, Shand J, Heggie A. Anesthetic implications of infants with mandibular hypoplasia treated with mandibular distraction osteogenesis. Paediatr Anaesth. 2013;23:342-8 pubmed publisher
    ..To document the incidence of difficult intubation following mandibular distraction osteogenesis (MDO) in children with severe mandibular hypoplasia...
  74. Thouvenin B, Djadi Prat J, Chalouhi C, Pierrot S, Lyonnet S, Couly G, et al. Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes. Am J Med Genet A. 2013;161A:312-9 pubmed publisher
    ..Global developmental quotient scores were lower but not significantly for children with an associated Stickler syndrome than those with isolated PRS. Children with isolated PRS showed good prognosis...
  75. Aboura A, Coulomb L Hermine A, Audibert F, Capron F, Frydman R, Tachdjian G. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly. Am J Med Genet. 2002;108:153-9 pubmed
    ..A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose...
  76. Gordillo M, Vega H, Trainer A, Hou F, Sakai N, Luque R, et al. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008;17:2172-80 pubmed publisher
    ..In summary, we provide the first evidence that loss of acetyltransferase activity contributes to the pathogenesis of RBS, underscoring the essential role of the enzymatic activity of the Eco1p family of proteins...