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Current Topics in Developmental Biology 2015The tongue and mandible have common origins. They arise simultaneously from the mandibular arch and are coordinated in their development and growth, which is evident... (Review)
Review
The tongue and mandible have common origins. They arise simultaneously from the mandibular arch and are coordinated in their development and growth, which is evident from several clinical conditions such as Pierre Robin sequence. Here, we review in detail the molecular networks controlling both mandible and tongue development. We also discuss their mechanical relationship and evolution as well as the potential for stem cell-based therapies for disorders affecting these organs.
Topics: Animals; Gene Expression Regulation, Developmental; Humans; Mandible; Mesoderm; Neural Crest; Osteogenesis; Stem Cells; Tendons; Tongue
PubMed: 26589920
DOI: 10.1016/bs.ctdb.2015.07.023 -
Acta Medica (Hradec Kralove) 2020Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other... (Review)
Review
Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other syndromes. Distinguishing isolated and syndromic forms of PRS helps clinicians decide the management plan. We describe two cases of PRS of Indian ethnicity and describe some of the difficulties that we faced while distinguishing isolated PRS from syndromic PRS. Both cases had a similar clinical presentation. However, one of the cases had a positive family history of congenital deafness and cleft palate, whereas the other case had apparent upper limb anomalies. These facts heightened the suspicion of an associated syndrome. However, based on the available facts and after thorough investigations, a tentative diagnosis of isolated PRS was made for both the patients. Both the cases were managed conservatively and were advised a long-term follow-up. When the associated anomalies are few, minor or concealed at birth, longitudinal follow-up of all PRS cases combined with thorough diagnostics including chromosomal analysis could help differentiate syndromic PRS from isolated PRS. Regardless, all cases of PRS require a multidisciplinary approach.
Topics: Humans; Infant; Infant, Newborn; Male; Pierre Robin Syndrome; Prone Position; Respiratory Insufficiency
PubMed: 32771075
DOI: 10.14712/18059694.2020.23 -
Plastic and Reconstructive Surgery Aug 2018There is a paucity of literature directly comparing tongue-lip adhesion versus mandibular distraction osteogenesis in surgical treatment of patients with Pierre Robin... (Comparative Study)
Comparative Study Review
There is a paucity of literature directly comparing tongue-lip adhesion versus mandibular distraction osteogenesis in surgical treatment of patients with Pierre Robin sequence. This study comprehensively reviews the literature for evaluating airway and feeding outcomes following mandibular distraction osteogenesis and tongue-lip adhesion. A search was performed using the MEDLINE and Embase databases for publications between 1960 and June of 2017. English-language, original studies subjects were included. Extracted data included prevention of tracheostomy (primary airway outcome) and ability to feed exclusively by mouth (primary feeding outcome). A total of 67 studies were included. Ninety-five percent of subjects (657 of 693) treated with mandibular distraction osteogenesis avoided tracheostomy, compared to 89% of subjects (289 of 323) treated with tongue-lip adhesion. Eighty-seven percent of subjects (323 of 370) treated with mandibular distraction osteogenesis achieved full oral feeds at latest follow-up. Seventy percent of subjects (110 of 157) treated with tongue-lip adhesion achieved full oral feeds at latest follow-up. The incidence of second intervention for recurrent obstruction ranged from 4 to 6 percent in mandibular distraction osteogenesis studies, compared to a range of 22 to 45 percent in tongue-lip adhesion studies. Variability of patient selection, surgical techniques, outcomes measurement methods, and follow-up length across studies precluded meta-analysis of the data. Both mandibular distraction osteogenesis and tongue-lip adhesion are effective alternatives to tracheostomy for patients who fail conservative management and improve feeding. Mandibular distraction osteogenesis may be superior to tongue-lip adhesion in long-term resolution of airway obstruction and avoidance of gastrostomy, but is associated with notable complications.
Topics: Humans; Lip; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Plastic Surgery Procedures; Tongue; Treatment Outcome
PubMed: 29870511
DOI: 10.1097/PRS.0000000000004581 -
Plastic Surgery (Oakville, Ont.) Feb 2019Children with Pierre Robin sequence (PRS) have a complex clinical presentation and requires many health-care providers. Thus, multiple clinical pathways have been...
INTRODUCTION
Children with Pierre Robin sequence (PRS) have a complex clinical presentation and requires many health-care providers. Thus, multiple clinical pathways have been proposed on how to manage this population, with some opting for conservative measures while others opting for a surgical approach. However, no consensus has been reached on the most appropriate protocol.
OBJECTIVE
To present the treatment protocol for PRS at the Hospital for Sick Children. This will be evaluated through a qualitative examination of the approach from the patient's perspective, and a micro-costing analysis of the financial aspects of providing care.
METHODS
A retrospective cohort study was conducted to evaluate infants who were admitted with PRS and failure to thrive from January 2004 to December 2015. This was followed by a micro-costing analysis to evaluate the cost of the management protocol. Finally, a qualitative evaluation of the parent's perspective was done.
RESULTS
Eighty-nine patients were admitted with failure to thrive during the study period. Fourteen patients underwent surgical management. Fourteen patients required readmission for airway or feeding issues secondary to PRS. The average cost per patient was Can$105 996. With regard to the qualitative evaluation, key themes that were generated included stress upon hospital admission, variable methods of understanding PRS, good level of communication with the team, excellent hospital process, and challenging transition home.
CONCLUSION
These results will aid in the continual evolution of a protocol and provide important information on PRS to both families and centers that manage these children.
PubMed: 30854357
DOI: 10.1177/2292550318767922 -
The Journal of Craniofacial Surgery Nov 2012Pierre Robin sequence and Treacher Collins syndrome are both associated with mandibular hypoplasia. It has been hypothesized, however, that the mandible may be... (Comparative Study)
Comparative Study
Pierre Robin sequence and Treacher Collins syndrome are both associated with mandibular hypoplasia. It has been hypothesized, however, that the mandible may be differentially affected. The purpose of this study was to therefore compare mandibular morphology in children with Pierre Robin sequence with children with Treacher Collins syndrome using three-dimensional analysis of computed tomographic scans. A retrospective analysis was performed identifying children with Pierre Robin sequence and Treacher Collins syndrome undergoing computed tomography. Three-dimensional reconstruction was performed, and ramus height, mandibular body length, and gonial angle were measured. These were then compared with those in control children with normal mandibles and with the clinical norms corrected for age and sex based on previously published measurements. Mandibular body length was found to be significantly shorter for children with Pierre Robin sequence, whereas ramus height was significantly shorter for children with Treacher Collins syndrome. This resulted in distinctly different ramus height-mandibular body length ratios. In addition, the gonial angle was more obtuse in both the Pierre Robin sequence and Treacher Collins syndrome groups compared with the controls. Three-dimensional mandibular morphometric analysis in patients with Pierre Robin sequence and Treacher Collins syndrome thus revealed distinctly different patterns of mandibular hypoplasia relative to normal controls. These findings underscore distinct considerations that must be made in surgical planning for reconstruction.
Topics: Cephalometry; Child; Child, Preschool; Chin; Female; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant, Newborn; Male; Mandible; Mandibular Condyle; Mandibulofacial Dysostosis; Patient Care Planning; Pierre Robin Syndrome; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 23154353
DOI: 10.1097/SCS.0b013e318258bcf1 -
Annals of Maxillofacial Surgery 2016The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists...
CONTEXT
The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the timing of management.
AIMS OF PART 1
Display disparities of the widely published subject of PRS that exist within the literature.
SUBJECTS AND METHODS
A literature search related to diagnostic criteria was compared to findings of one of the largest PRS databases worldwide.
RESULTS
Regarding diagnostic criteria two subdivisions, the Fairbairn-Robin triad (FRT) and the Siebold-Robin sequence (SRS) can be clearly distinguished. Both present with micrognathia and glossoptosis, the former with, the latter, however, without a palatal cleft.
CONCLUSIONS
According to clear diagnostic criteria, PRS has to be subdivided in the future into FRT and SRS cases, as they may require different treatment approaches.
PubMed: 27563603
DOI: 10.4103/2231-0746.186133 -
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 :... Jun 2020To identify concepts and constructs important to parents of children with Pierre Robin Sequence (PRS).
OBJECTIVE
To identify concepts and constructs important to parents of children with Pierre Robin Sequence (PRS).
DESIGN
Qualitative study.
SETTING
All children received some care at a tertiary hospital with additional care at outside facilities. Interviews were conducted in nonclinical locations, including remote locations.
PARTICIPANTS
Parents of children <5 years old with a diagnosis of PRS. Prior treatments included observation, positioning, nasal trumpet, mandibular distraction osteogenesis, tracheostomy, and gastrostomy.
INTERVENTION
Semi-structured interviews with individuals (4) and with groups (focus groups, 4) were conducted using open-ended questions and non-leading prompts. Transcripts were analyzed with iterative open and axial coding. Concepts and constructs were identified and refined into codes and central themes. Interviews were conducted until thematic saturation was achieved.
RESULTS
Sixteen parents were interviewed. Their experiences were coded into 5 main themes, which can be summarized as: (1) child's symptoms/well-being, (2) parents' grief/isolation, (3) family stress, (4) relationships with providers, and (5) psychological and technical growth. Difficulty with feeding, weight gain, and breathing problems were core physical issues described by participants with associated intense fear. Participants described frustration from not only lack of care coordination, slow diagnoses, and poor communication but also gratitude for providers who served as advocates. Participants described gradual development of knowledge/competencies.
CONCLUSIONS
Families of children with PRS have experiences that profoundly affect their lives. Child's physical symptoms/well-being and parents' psychosocial well-being provide content for a future PRS-specific quality-of-life instrument. Concepts that emerged also provide a framework to improve parents' experience and enhance their children's quality of care.
Topics: Child; Child, Preschool; Humans; Mandible; Osteogenesis, Distraction; Parents; Pierre Robin Syndrome; Qualitative Research
PubMed: 32174155
DOI: 10.1177/1055665620910331 -
Journal of Developmental Biology Dec 2020The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory... (Review)
Review
The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR.
PubMed: 33291480
DOI: 10.3390/jdb8040030 -
Sleep Medicine Reviews Jun 2016Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with... (Review)
Review
Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. 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 multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.
Topics: Airway Obstruction; Child; Cleft Palate; Craniofacial Abnormalities; Craniosynostoses; Humans; Pierre Robin Syndrome; Sleep Apnea, Obstructive; Tonsillectomy; Tracheostomy
PubMed: 26454241
DOI: 10.1016/j.smrv.2015.05.010