|DENTAL SCIENCE - CASE REPORT
|Year : 2015 | Volume
| Issue : 6 | Page : 718-720
Surgical management of a large cleft palate in a Pierre Robin sequence: A case report and review of literature
Sherry Andrews1, Mathew Sam1, Ramesh Krishnan2, Maya Ramesh3, Shiji M Kunjappan4
1 Department of Oral and Maxillofacial Surgery, Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia
2 Department of Pedodontics, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India
3 Department of Oral Pathology, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India
4 Department of Orthodontics, Vinayaka Missions Sankarachariyar Dental College, Salem, Tamil Nadu, India
|Date of Submission||28-Apr-2015|
|Date of Decision||28-Apr-2015|
|Date of Acceptance||22-May-2015|
|Date of Web Publication||1-Sep-2015|
Department of Oral and Maxillofacial Surgery, Armed Forces Hospital Southern Region
Kingdom of Saudi Arabia
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Pierre Robin syndrome or Pierre Robin sequence (PRS) is a congenital etiologically heterogeneous condition presenting with various malformations. Here we are reporting the surgical management of an 18-month-old female baby who was referred from Department of Pediatrics with a complaint of a large cleft palate. She was taken up for palatoplasty with consent for elective tracheostomy. After genetic evaluation, the authors conclude that the presented case was a PRS in isolation with mild cardiac anomalies and an inferiorly placed hypoplastic epiglottis. Patient should be followed up and growth modifications of the jaws should be done.
Keywords: Cleft palate, comparative genome hybridization-244 k gene, Pierre Robin sequence, von Langenbeck technique
|How to cite this article:|
Andrews S, Sam M, Krishnan R, Ramesh M, Kunjappan SM. Surgical management of a large cleft palate in a Pierre Robin sequence: A case report and review of literature. J Pharm Bioall Sci 2015;7, Suppl S2:718-20
|How to cite this URL:|
Andrews S, Sam M, Krishnan R, Ramesh M, Kunjappan SM. Surgical management of a large cleft palate in a Pierre Robin sequence: A case report and review of literature. J Pharm Bioall Sci [serial online] 2015 [cited 2020 Jan 24];7, Suppl S2:718-20. Available from: http://www.jpbsonline.org/text.asp?2015/7/6/718/163498
Pierre Robin syndrome or Pierre Robin sequence (PRS) is a congenital etiologically heterogeneous condition presenting with various malformations. PRS is essentially a sequence, that is, a chain of developmental malformations, one following the next.  The syndrome mainly features a congenital small retrusive mandible (retromicrognathia), cleft palate and glossoptosis (backward displacement of the tongue base) and manifesting in respiratory embarrassment due to upper airway obstruction. It is also been postulated that some of the mandibular malformation results from antenatal orofacial hypomobility, usually related to a functional defect in the rhombencephalon (hindbrain). 
| Review of Literature|| |
Pierre Robin sequence may occur in isolation, but it is often part of an underlying disorder or syndrome. It is very commonly associated with Stickler syndrome. Various disorders causing PRS are velocardiofacial syndrome, fetal alcohol syndrome, and Treacher Collins syndrome. 
Although the condition was first mentioned by Shukowsky,  where he suggests of symptomatic relief by means of surgical tongue fixation, it was Pierre Robin  the French stomatologist who 12 years later in 1923 described the syndrome and the essential problems manifested because of micrognathia and introduced the term glossoptosis. 
Though in the initial description palatal cleft was not mentioned current literature suggests that micrognathia is the primary anomaly that causes both cleft palate and upper airway obstruction in PRS.  Epiglottal hypoplasia though rare has been associated with the condition. 
Congenital heart disease has been reported in about 20% of PRS patients of which ventricular septal defect (VSD), patent ductus arteriosus (PDA), and atrial septal defect being most common. 
Recently, a genetic cause to PRS was identified, which may be due to genetic anomalies at chromosomes 2, 11, or 17. A locus for PRS has been mapped to chromosome 17q24 in a four-generation family. Investigators found significantly reduced SOX9 and KCNJ2 mRNA expression in patients, using array comparative genome hybridization analysis with human whole genome oligonucleotide microarray kits 244K in PRS, and the nonsyndromic PRS may be caused by both SOX9 and KCNJ2 dysregulation. 
| Case Report|| |
An 18-month-old baby girl presented to our clinic being referred from pediatrics with a complete cleft palate. She was born to nonconsanguineous parents, through lower segment Caesarean section due to fetal distress. The mother gave a history of fever multiple times during the first trimester of pregnancy.
A DNA mapping with a CGH-244k mentioned of a PRS. Clinical examination showed microretrognathia, short neck, saddle nose, small eye and a wide "U" shaped cleft palate and a moon face appearance [Figure 1] and [Figure 2]. She presented with nasal regurgitation during feeding. She also presented with congenital cardiac anomalies namely; tiny mid-muscular VSD, tiny PDA, and myxomatous mitral valve. A diagnosis of PRS was made. She did not give a history of respiratory distress during her 18 months period.
She was taken up for palatoplasty with consent for elective tracheostomy in an event of intubation failure for general anesthesia. Intubation through direct vision was difficult and failed after multiple attempts to visualize the epiglottis, which was small and placed very low. Oro-endotracheal intubation was finally done through fiber optic assisted intubation. Under endocarditis prophylaxis, total palatoplasty was done using von Langenbeck technique [Figure 3]. 
She was successfully extubated and transferred to the Pediatric Intensive Care and subsequently to the ward with hand restraints, where she went through an uneventful period after which she was discharged [Figure 4]. One and 2 weeks follow-up showed a stable baby with surgical site healing well [Figure 5].
She would be followed up for mandibular growth and the need for any intervention including vocal and feeding training and long term prognosis.
| Discussion|| |
"Pierre Robin" is a readily recognized condition consisting of a hypoplastic or retrognathic mandible and glossoptosis leading to respiratory distress, with or without a cleft palate which when present is usually a wide "U" shaped cleft, though "v" shaped or soft palate clefts have been reported. Though multiple anomalies are present, it is considered as a "sequence" rather than a syndrome as one or all anomalies are possible consequences of the mandibular anomaly. The incidence reported varies between 1:8,500 and 1:14,000 live births.  Management is focused mainly with functional issues associated with airway and feeding. A 30% mortality has been mention, but the prognosis is good if the neonate survive the respiratory and feeding issues. Thus, treatment may begin as a surgical emergency in the neonatal period to the symptomatic management of upper respiratory obstruction and feeding problems. All procedures are mainly directed to widening the pharyngeal space or bridging the narrow upper airway.  These range from postural positioning to use of appliances to surgical procedures.
Step by step approach to treatment:
- Widening the pharyngeal space
- Prone positioning of child
- Tongue-lip adhesion or glossopexy
- Mandibular traction
- Mandibular distraction osteogenesis.
- Bridging/stenting the obstructed airway
- Nasopharyngeal tube
- Nasal respiratory support
- Correction of glossoptosis and stimulation of mandibular growth
- Palatal plate
- Preepiglottic baton plate.
- Feeding soft nipple with wide opening or squeeze bottle.
Once the neonate thrives through the initial phase of functional problems palatoplasty is attempted at 9-18 months. Mandible usually grows out by 2 years.
| Conclusion|| |
Pierre Robin sequence is a congenital anomaly characterized by micrognathia, cleft palate and glossoptosis at varying levels and presentations. It could be seen as an isolated anomaly or be associated with other congenital conditions or one feature of many syndromes.
After genetic evaluation, the authors conclude that the presented case was a PRS in isolation with mild cardiac anomalies and an inferiorly placed hypoplastic epiglottis. Several methods have been described in the management of PRS. The main aim of treatment focused at respiratory distress and nutrition. The authors recommend extreme vigilance during every stage of the management of anomalies presented with PRS. We followed the literature which describes the closure of palatal cleft at 18 months after certain advancement in mandibular growth before beginning of active speech. Further, it gives better patient compliance reduces the need for tracheostomy and there wasn't any postoperative airway embarrassment or any event with baby compliance.
| References|| |
Shprintzen RJ, Siegel-Sadewitz VL, Amato J, Goldberg RB. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet 1985;20:585-95.
van den Elzen AP, Semmekrot BA, Bongers EM, Huygen PL, Marres HA. 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.
Sesenna E, Magri AS, Magnani C, Brevi BC, Anghinoni ML. Mandibular distraction in neonates: indications, technique, results. Ital J Pediatr 2012;38:7.
Robin P. La chute de la langue base considéréecommeune gênedans nouvelle cause of the naso-pharyngienne respiration. Bull Acad Med (Paris) 1923;89:37-41.
Robin P. Glosoptossis due to atresia and hypertrophy of the mandible. Am J Dis Child 1934;48:541-7.
Li SP, Fang TJ, Lee SW, Li HY. A rudimentary epiglottis associated with Pierre Robin sequence. Int J Oral Maxillofac Surg 2006;35:668-70.
Pearl W. Congenital heart disease in the Pierre Robin syndrome. Pediatr Cardiol 1982;2:307-9.
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 2009;41:359-64.
Agrawal K. Cleft palate repair and variations. Indian J Plast Surg 2009;42 Suppl: S102-9.
Bush PG, Williams AJ. Incidence of the Robin Anomalad (Pierre Robin syndrome). Br J Plast Surg 1983;36:434-7.
Frohberg U, Lange RT. Surgical treatment of Robin sequence and sleep apnea syndrome: Case report and review of the literature. J Oral Maxillofac Surg 1993;51:1274-7.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]