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European Journal of Pediatrics Jan 2001We performed a retrospective study of all children with Pierre Robin sequence (PRS), admitted to our hospital from 1981-1998 in order to evaluate diagnosis, treatment... (Review)
Review
UNLABELLED
We performed a retrospective study of all children with Pierre Robin sequence (PRS), admitted to our hospital from 1981-1998 in order to evaluate diagnosis, treatment and prognosis. Patients were divided into two categories: isolated PRS (group 1) and PRS plus, i.e. PRS as part of a more complex syndrome (group 2). A total of 74 patients with PRS were found, 29 (39%) males and 45 (61%) females of whom 47 (63.5%) could be categorised as isolated PRS and 27 (36.8%) as PRS plus. The most frequent diagnoses in patients with PRS plus were Stickler syndrome and the velocardiofacial syndrome. Ophthalmological and fluorescent in situ hybridisation of chromosome 22 investigations should therefore be performed in all patients, as soon as the diagnosis of PRS is established. Some form of airway treatment was necessary in the majority of patients (52 of 74), most could be treated conservatively with prone/lateral positioning and close observation. Endotracheal intubation was necessary in one child from group 1 versus five from group 2. 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.
CONCLUSION
In our series, 33% of patients with Pierre Robin sequence plus had Stickler and velocardiofacial syndromes. Conservative airway management was a sufficient treatment for respiratory problems in the majority of patients. Feeding and growth need special attention in patients with Pierre Robin sequence.
Topics: Child; Female; Humans; Male; Pierre Robin Syndrome; Prognosis; Retrospective Studies
PubMed: 11195018
DOI: 10.1007/s004310000646 -
Journal of Plastic, Reconstructive &... Dec 2009Different nosology has hampered our understanding of patients with Robin sequence. Defining this disorder correctly has important consequences for physicians and...
Different nosology has hampered our understanding of patients with Robin sequence. Defining this disorder correctly has important consequences for physicians and parents. While reviewing treatment options for Robin sequence we were surprised to see how often different definitions were used to describe this condition. This prompted us to perform a review into the current understanding when diagnosing and defining this disorder. At our Annual Dutch Cleft Palate Meeting a questionnaire was given to all those attending requesting them to summarise characteristics needed for a definition of 'Robin sequence'. Sixty-six questionnaires were returned, demonstrating 29 different descriptions. Our study demonstrates that there is widespread confusion in the Netherlands defining Robin sequence. This lack of uniformity in the definition hampers the comparison of outcome studies. The treatment of patients with Robin sequence often involves multidisciplinary involvement, making it crucial to have one common definition. We suggest using the description originally summarised by Pierre Robin consisting of micrognathia, glossoptosis and airway compromise. Once the diagnosis of Robin sequence is made other adjuncts such as an associated cleft palate, syndrome or feeding problems could be added to the description.
Topics: Airway Obstruction; Cleft Palate; Humans; Medicine; Micrognathism; Netherlands; Pierre Robin Syndrome; Tongue
PubMed: 18977702
DOI: 10.1016/j.bjps.2008.06.050 -
Paediatric Respiratory Reviews Jan 2016Pierre Robin sequence (PRS) is a heterogeneous condition presenting with upper airway obstruction (UAO) of varying severity. Polysomnography (PSG) is an objective... (Review)
Review
Pierre Robin sequence (PRS) is a heterogeneous condition presenting with upper airway obstruction (UAO) of varying severity. Polysomnography (PSG) is an objective investigation to assess the severity of obstructive sleep apnea and UAO. Its role in the management of PRS has not been well defined. This review summarizes the available evidence on the role of PSG in the assessment of infants with PRS in the context of other commonly used methods of assessment.
Topics: Airway Obstruction; Humans; Infant; Pierre Robin Syndrome; Polysomnography; Sleep Apnea, Obstructive
PubMed: 26563513
DOI: 10.1016/j.prrv.2015.10.001 -
The Journal of Pediatrics Apr 2012To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with... (Review)
Review
OBJECTIVES
To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with PRS, and contrast the interventions provided to children with isolated and syndromic PRS.
STUDY DESIGN
The study involved retrospective chart reviews at 2 children's hospitals and a systematic literature review.
RESULTS
Approximately 40% of the patients had isolated PRS, and 60% of the patients had additional syndromic features. The patients with PRS with syndromic features required more aggressive medical management. Stickler syndrome was the most common syndromic diagnosis in PRS. The difficulty of making an accurate genetic diagnosis during the neonatal period was demonstrated.
CONCLUSION
All infants with PRS should be evaluated to check for the presence of syndromic features, and a longitudinal follow-up is warranted to monitor for the development of any syndromic features.
Topics: Female; Hospitals, Pediatric; Humans; Infant, Newborn; Male; Pierre Robin Syndrome; Retrospective Studies
PubMed: 22048048
DOI: 10.1016/j.jpeds.2011.09.021 -
The Journal of Craniofacial SurgeryThe Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. Conservative management in Pierre Robin sequence...
The Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. Conservative management in Pierre Robin sequence consists of nasogastric tube feeding and positioning of the neonate (prone or lateral position) that facilitates the anterior position of the tongue or the application of continuous positive nasal pressure. In case of failure of this treatment, emergency tracheostomy and/or mandibular distraction must be performed.Mandibular distraction is a standard technique used by craniofacial surgeons to achieve an anteroposterior horizontal lengthening of the mandibular body, correcting the posterior position of the base of the tongue and thus retropharyngeal enlargement of the airway.The authors present 2 clinical cases of hypertrophy of the sublingual salivary glands with the use of mandibular distractors in SPR patients with severe airway obstruction.
Topics: Airway Obstruction; Humans; Infant, Newborn; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Tongue; Treatment Outcome
PubMed: 35385242
DOI: 10.1097/SCS.0000000000008293 -
Otolaryngology--head and Neck Surgery :... Feb 2019To assess the dental class occlusion and lateral cephalometry of children with conservatively treated Pierre Robin sequence (PRS) and to identify associations between...
OBJECTIVE
To assess the dental class occlusion and lateral cephalometry of children with conservatively treated Pierre Robin sequence (PRS) and to identify associations between these findings and prepalatoplasty cleft palate measurements.
STUDY DESIGN
Retrospective cohort study.
SUBJECTS AND METHODS
Among 22 patients with PRS, the following data were prospectively collected: demographics and preoperative cleft palate measurements. After patients reached age 6 years, an orthodontist assessed dental occlusion class and performed a lateral cephalometric analysis. PRS cephalometric data were compared with reference population values. Bivariate logistic regression was used to test the association with malocclusion class. Results are presented as odds ratios with 95% profile likelihood confidence intervals. The association between cleft measurements and cephalometric parameters was tested with Spearman's correlation ( r).
RESULTS
All 22 patients had bimaxillary hypoplasia and were prone to hyperdivergency, with a 41% rate of dental class III malocclusion. An increased anterior growth of the still retrusive mandible mostly accounts for the occurrence of the class III malocclusion in PRS (class II SNB = 74.3° vs class III SNB = 77.6°, P = .04). A larger cleft at the time of the cleft repair (mean, 11 months) was associated with increased mandibular retrusion (smaller SNB angle, r = -0.5, P = .02).
CONCLUSIONS
The 41% rate of class III malocclusion among these conservatively treated patients needs to be considered in the choice of the initial airway approach. The future impact of early mandibular advancement will have to be determined.
Topics: Cephalometry; Child; Cleft Palate; Cohort Studies; Confidence Intervals; Female; Hospitals, University; Humans; Logistic Models; Male; Malocclusion, Angle Class III; Odds Ratio; Orthognathic Surgical Procedures; Pierre Robin Syndrome; Predictive Value of Tests; Prognosis; Quebec; Retrospective Studies; Risk Assessment; Treatment Outcome
PubMed: 30325698
DOI: 10.1177/0194599818807918 -
Orbit (Amsterdam, Netherlands) Jun 2024Pierre-Robin sequence consists of a classical triad of micrognathia, glossoptosis, and upper airway obstruction. The common ocular manifestations include congenital...
Pierre-Robin sequence consists of a classical triad of micrognathia, glossoptosis, and upper airway obstruction. The common ocular manifestations include congenital glaucoma, high myopia, maculopathy, and retinal detachment. Except for a mention of a nasolacrimal duct obstruction without many details, lacrimal drainage anomalies have not been reported earlier to the best of the authors' knowledge. The present case describes several lacrimal drainage anomalies including supernumerary puncta, canalicular wall hypoplasia, grossly dilated nasolacrimal duct, and complex congenital nasolacrimal duct obstruction in a patient of Pierre Robin sequence. The patient was successfully managed with endoscopic guided probing and marsupialization of the large intranasal cyst resulting in a complete resolution of epiphora.
Topics: Humans; Pierre Robin Syndrome; Lacrimal Duct Obstruction; Nasolacrimal Duct; Endoscopy; Male; Female; Tomography, X-Ray Computed
PubMed: 36305558
DOI: 10.1080/01676830.2022.2139394 -
Seminars in Pediatric Surgery Jun 2016Glossoptosis causes varying degrees of airway obstruction and feeding difficulties. It can occur as a consequence of micrognathia in Robin Sequence, but can also occur... (Review)
Review
Glossoptosis causes varying degrees of airway obstruction and feeding difficulties. It can occur as a consequence of micrognathia in Robin Sequence, but can also occur in children with hypotonia. Despite several attempts to classify severity in Robin Sequence patients, taking into account symptoms, presence of concomitant syndromes or malformations, and even endoscopic findings, there is still no general consensus. Furthermore, several management recommendations have been reported without an agreement about indications, efficacy, or risks of each treatment option. The present article provides an overview of clinical presentation, diagnosis, management, and prognosis of patients with glossoptosis.
Topics: Child; Combined Modality Therapy; Continuous Positive Airway Pressure; Glossoptosis; Humans; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Prognosis; Tracheostomy
PubMed: 27301596
DOI: 10.1053/j.sempedsurg.2016.02.002 -
Laryngo- Rhino- Otologie Oct 2010The Pierre Robin sequence (PRS) characterized by mandibular micro- or retrognathia and glossoptosis with or without cleft palate, presents clinically with intermittent... (Review)
Review
The Pierre Robin sequence (PRS) characterized by mandibular micro- or retrognathia and glossoptosis with or without cleft palate, presents clinically with intermittent upper airway obstruction (UAO). It is associated with other malformations in about half the cases. The incidence is about 1:8,500. Isolated PRS without other malformations does not, by itself, appear to affect neurodevelopment. Active intervention may therefore be required to reduce the risk for neurocognitive impairment resulting from UAO. Current treatment options for UAO range from prone positioning, use of a nasopharyngeal tube, glossopexy via tongue lip adhesion, mandibular distraction to tracheostomy. An effective, non-invasive treatment protocol which includes implementation of an intraoral orthodontic appliance with velar extension (the pre-epiglottic baton plate; PEBP) is presented in this article.
Topics: Airway Obstruction; Cleft Palate; Combined Modality Therapy; Cooperative Behavior; Humans; Infant; Infant, Newborn; Interdisciplinary Communication; Intubation, Intratracheal; Palatal Obturators; Pierre Robin Syndrome; Polysomnography; Prone Position; Sleep Apnea, Obstructive
PubMed: 20949412
DOI: 10.1055/s-0030-1265140 -
Prenatal Diagnosis Jun 1999The purpose of this study was to evaluate the spectrum of prenatal sonographic and chromosomal findings, associated anomalies and perinatal and neonatal outcomes in...
The purpose of this study was to evaluate the spectrum of prenatal sonographic and chromosomal findings, associated anomalies and perinatal and neonatal outcomes in cases with Pierre-Robin sequence. All cases (20) with Pierre Robin sequence, who were born at China Medical College Hospital between 1990 and 1997, were included and analysed in this series. 12 pregnancies (60 per cent) were complicated by polyhydramnios and 9 (45 per cent) were combined with cleft palate. Four cases (20 per cent) with cardiac anomalies were also observed. Two fetuses (10 per cent) had abnormal karyotyping (one trisomy 21, one trisomy 18). All fetuses were delivered at or near term. Male deviation was observed in cases with isolated Pierre-Robin sequence or combined mild anomalies (male female ratio: 13:3). Two neonatal mortalities and three with mental retardation were observed. This investigation provides a basis for counselling patients with fetal micrognathia or neonatal Pierre-Robin sequence. The main prenatal sonographic findings of Pierre-Robin sequence are micrognathia, polyhydramnios and cleft palate. In cases of polyhydramnios, sonographic examination of the facial profile and palate are recommended. After the finding of polyhydramnios, micrognathia, and even cleft palate, clinicians should be aware of the possibility of neonatal Pierre-Robin sequence. Cardiac evaluation and karyotyping is also recommended.
Topics: Abnormalities, Multiple; Counseling; Female; Humans; Infant, Newborn; Male; Pierre Robin Syndrome; Pregnancy; Ultrasonography, Prenatal
PubMed: 10416975
DOI: No ID Found