-
Pediatrics International : Official... Apr 2015Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia,... (Review)
Review
Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.
Topics: Fatal Outcome; Humans; Infant; Infant, Newborn; Male; Mandibulofacial Dysostosis; Pierre Robin Syndrome; Respiration, Artificial; Tracheostomy
PubMed: 25808856
DOI: 10.1111/ped.12562 -
The Journal of Craniofacial Surgery Sep 2020After a failed mandibular osteodistraction, the wrong positioned mandible of a few patients with Pierre Robin sequence returned in the most functional position and...
After a failed mandibular osteodistraction, the wrong positioned mandible of a few patients with Pierre Robin sequence returned in the most functional position and regained a proper symmetry, without external intervention. The study aims to explain this self-adjustment and introduce the floating bone phenomenon.The inclusion criteria were severe micrognathia, Fast and Early Mandibular Distraction Osteogenesis protocol, postoperative mandibular wrong positioning, presurgery, immediate postsurgery, and long-term computed tomography scan. Five patients were included. The considered parameters were the distance between mandibular dental centerline and midsagittal facial axis, the rotation of the mandibular body, the magnitude of elongation, and the lowering of the mandibular body.Three patients went from a decentralization >4 mm in the activation phase to a normalization of the said value in the follow-up. In the same period, the interincisal point of 2 patients moved respectively from 0.5 mm on the left and 0.8 mm on the right to 1.2 mm and 1.6 mm on the right, respectively. The rotation of the mandibular body was meanly 25.6° among all patients. The mean value of the distraction was 14.1 mm. A difference of about 4.4 mm between the left and the right side was measured. The lowering of the mandible varied between 2.8 and 12.6 mm.All patients improved their symmetry. Four of them improved in all the measured parameters, while 1 patient presented a worsening in the decentralization of the interincisal point.The floating bone phenomenon could break new grounds in the management of patients with Pierre Robin sequence.
Topics: Humans; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32282671
DOI: 10.1097/SCS.0000000000006405 -
American Journal of Medical Genetics.... Nov 2013Pierre Robin sequence (PRS) is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate and glossoptosis leading to life-threatening obstructive... (Review)
Review
Pierre Robin sequence (PRS) is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period. The respiratory issues require careful management and in severe cases may require extended stays in neonatal intensive care units and surgical intervention such as lengthening the lower jaw or tracheotomy to relieve airway obstruction. These feeding and respiratory complications frequently continue well into childhood, affecting not only growth and development but also impacting on long term educational attainment. The diagnosis of PRS depends on readily recognizable clinical features but the phenotypic similarity of many PRS individuals conceals considerable etiological heterogeneity. Defects in the growth of the mandible sit at the core of PRS and the natural history of PRS can be classified into two major streams: primary defects of mandibular outgrowth and elongation and issues that are external to the mandibular skeleton but that secondarily impact on its growth. These altered developmental trajectories appear to be driven by a range of influences including defects in cartilage growth, neuromuscular function and fetal constraint. Various genetic and cytogenetic associations have been made with PRS and the diversity of these associations highlights the fact that there are numerous ways to arrive at this common phenotypic endpoint.
Topics: Airway Obstruction; Apnea; Cleft Palate; Humans; Intensive Care, Neonatal; Mandible; Phenotype; Pierre Robin Syndrome
PubMed: 24127256
DOI: 10.1002/ajmg.c.31374 -
Plastic and Reconstructive Surgery Apr 1994All children admitted to our hospital between 1964 and 1991 with a diagnosis of Pierre Robin sequence were divided into three groups according to the severity of their... (Review)
Review
All children admitted to our hospital between 1964 and 1991 with a diagnosis of Pierre Robin sequence were divided into three groups according to the severity of their symptoms: group I: adequate respiration in prone position and bottle feeding; group II: adequate respiration in prone position but feeding difficulties requiring gavage; and group III: children with respiratory distress and endotracheal intubation and gavage. The presence of associated anomalies, prematurity, and psychomotor impairment was noted as well as the surgical interventions performed. We found 56 children (44.8 percent) in group I, 40 children (32 percent) in group II, and 29 children (23.2 percent) in group III. Seventeen children (13.6 percent) died: 1 of 56 in group I, 4 of 40 in group II, and 12 of 29 in group III. Among the 125 patients, 57 presented at least one associated anomaly other than a cleft palate and the Pierre Robin triad. Thirteen deaths were found in this group (13 of 57 = 22.8 percent). Ten children were premature (10 of 125), and 6 of the premature infants died (60 percent). Twenty-two children required at least one surgical procedure to relieve the upper airway obstruction. Among the 108 survivors in this study, 25 presented a psychomotor impairment (23.1 percent). The children admitted after 1986 were submitted to routine serial blood gases, oxygen saturation monitoring, and polysomnographic recordings. The therapeutic interventions were done earlier. Thirty-four children were followed after 1986: 14 in group I, 11 in group II, and 9 in group III.(ABSTRACT TRUNCATED AT 250 WORDS)
Topics: Abnormalities, Multiple; Airway Obstruction; Child; Enteral Nutrition; Female; Humans; Infant; Infant, Newborn; Infant, Premature; Intellectual Disability; Intubation, Intratracheal; Male; Pierre Robin Syndrome; Regression Analysis; Severity of Illness Index; Survival Rate; Tracheostomy
PubMed: 8134485
DOI: No ID Found -
Fetal Diagnosis and Therapy 2016Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation... (Review)
Review
Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.
Topics: Diagnosis, Differential; Female; Glossoptosis; Humans; Micrognathism; Pierre Robin Syndrome; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal
PubMed: 25967128
DOI: 10.1159/000380948 -
Plastic and Reconstructive Surgery Nov 2020One of the arguments against early intervention for micrognathia in Pierre Robin sequence is the concept that the growth of the mandible will eventually "catch up."...
BACKGROUND
One of the arguments against early intervention for micrognathia in Pierre Robin sequence is the concept that the growth of the mandible will eventually "catch up." Long-term growth of the mandible and occlusal relationships of conservatively managed Pierre Robin sequence patients remain unknown. In this study, the authors evaluated the orthognathic surgery requirements for Pierre Robin sequence patients at skeletal maturity.
METHODS
Orthognathic surgical requirements of conservatively managed Pierre Robin sequence and isolated cleft patients (aged ≥13 years) at two institutions were reviewed and analyzed using t test, chi-square test, and Fisher's exact test. Values of p < 0.05 were considered statistically significant.
RESULTS
Of the Pierre Robin sequence patients (n = 64; mean age ± SD, 17.9 ± 2.9 years), 65.6 percent were syndromic (primarily Stickler and velocardiofacial syndrome), 96.9 percent had a cleft palate, and 39.1 percent required orthognathic surgery at skeletal maturity. Nonsyndromic and syndromic Pierre Robin sequence patients demonstrated no differences in occlusal relationships or mandibular surgery frequency. The majority of Pierre Robin sequence patients requiring mandibular advancement had a class II occlusion. Comparison of Pierre Robin sequence patients to isolated cleft palate patients (n = 17) revealed a comparable frequency of orthognathic surgery between the two; however, Pierre Robin sequence patients did require mandibular advancement surgery at a greater frequency than cleft palate patients (p = 0.006).
CONCLUSIONS
The present study found that 39.1 percent of conservatively managed Pierre Robin sequence patients required orthognathic surgery at skeletal maturity, of which the vast majority required mandibular advancement for class II malocclusion. These data suggest that mandibular micrognathia in conservatively managed Pierre Robin sequence patients may not resolve over time and may require surgical intervention.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, II.
Topics: Adolescent; Cephalometry; Cleft Palate; Conservative Treatment; Female; Follow-Up Studies; Humans; Male; Malocclusion, Angle Class II; Mandible; Orthognathic Surgical Procedures; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome; Young Adult
PubMed: 33136957
DOI: 10.1097/PRS.0000000000007246 -
Child's Nervous System : ChNS :... Jul 2020The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal... (Review)
Review
INTRODUCTION
The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS.
METHODS
We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion.
RESULTS
Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS.
CONCLUSION
Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.
Topics: Adolescent; Airway Obstruction; Chromosome Deletion; Chromosomes, Human, Pair 10; Female; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Spinal Diseases
PubMed: 32399800
DOI: 10.1007/s00381-020-04642-2 -
The Cleft Palate-craniofacial Journal :... Mar 2006The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some... (Comparative Study)
Comparative Study Review
OBJECTIVE
The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. 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.
DESIGN
After searching Medline for "pierre robin and genetics," the Mendelian Cytogenetics Network database for "robin" and "pierre robin," and two reviews from the Human Cytogenetics Database for "cleft palate" and "micrognathia," a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes.
RESULTS
The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance.
CONCLUSION
Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.
Topics: Cleft Lip; Cleft Palate; DNA Mutational Analysis; Databases, Genetic; Humans; Male; Pierre Robin Syndrome
PubMed: 16526920
DOI: 10.1597/05-008.1 -
American Journal of Medical Genetics.... Jun 2018The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as "Robin sequence" (RS) is caused by oropharyngeal developmental events constrained... (Review)
Review
The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as "Robin sequence" (RS) is caused by oropharyngeal developmental events constrained by a reduced stomadeal space. This sequence of abnormal embryonic development also results in an anatomical configuration that might predispose the fetus to a cleft palate. RS is heterogeneous and many different etiologies have been described including syndromic, RS-plus, and isolated forms. For an optimal diagnosis, subsequent treatment and prognosis, a thorough understanding of the embryology and pathogenesis is necessary. This manuscript provides an update about our current understanding of the development of the mandible, tongue, and palate and possible mechanisms involved in the development of RS. Additionally, we provide the reader with an up-to-date summary of the different etiologies of this phenotype and link this to the embryologic, developmental, and genetic mechanisms.
Topics: Female; Gene Expression Regulation, Developmental; Humans; Mandible; Palate; Pierre Robin Syndrome; Pregnancy; Tongue
PubMed: 29696787
DOI: 10.1002/ajmg.a.38718 -
The Journal of Craniofacial Surgery Jun 2023Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, cleft palate, and airway distress. The aims of initial treatment are the improvement of...
BACKGROUND
Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, cleft palate, and airway distress. The aims of initial treatment are the improvement of airway and feeding. There are many therapeutic options, including conservative techniques (prone positioning and nasopharyngeal tube) and invasive procedures (mandibular distraction and tracheostomy). In our center, initially conservative treatment is the rule and many patients have been treated with nasopharyngeal tube.
OBJECTIVE
The aim was to analyze of the clinical evolution of respiratory distress in infants with PRS submitted to nonsurgical treatment.
METHODS
A retrospective and observational descriptive evaluation was carried out with 56 patients with the PRS at Centro de Atendimento Integral ao Fissurado Labiopalatal (CAIF). 21 patients were selected to a transversal phase.
RESULTS
The treatment has started in an average age of 1.5 months (±2.09) and 17 (94.4%) had respiratory distress at birth. Polysomnographic exams showed an average apnea/hypopnea index of 0.93, an average number of central apnea/hour of 0.3, an average number of obstructive apnea of 0.6 and an average oxygen saturation of 92%. There was the predominance of esthetic profile in class II with 16 (88.9%) patients in this group, and orthodontic profile in class II with 15 (83.3%) patients.
CONCLUSION
The conservative treatment has presented remarkable results in the treatment of respiratory distress in bearers of PRS with a decrease of obstructive sleep events considering the growth of patient and the development of mandibular growth as well.
Topics: Infant; Infant, Newborn; Humans; Pierre Robin Syndrome; Retrospective Studies; Conservative Treatment; Airway Obstruction; Sleep Apnea, Obstructive; Dyspnea; Respiratory Distress Syndrome; Treatment Outcome; Osteogenesis, Distraction
PubMed: 37220722
DOI: 10.1097/SCS.0000000000009090