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American Journal of Medical Genetics.... Oct 2016Toriello and Carey described a provisionally-unique syndrome comprised of agenesis of the corpus callosum, Pierre Robin anomaly, and a characteristic facial phenotype.... (Review)
Review
Toriello and Carey described a provisionally-unique syndrome comprised of agenesis of the corpus callosum, Pierre Robin anomaly, and a characteristic facial phenotype. Because the condition affected siblings, this entity was postulated to be an autosomal recessive multiple anomaly syndrome. Several patients were subsequently reported, and over time, it became apparent that the Toriello-Carey syndrome was etiologically heterogeneous. Based on previous reports, it is estimated that at least 20% of patients with a clinical diagnosis of Toriello-Carey syndrome have a chromosomal anomaly as the basis of the phenotype. However, no basis for the non-chromosomal cases has been found. This review summarizes the literature to date and provides speculation regarding the possible explanations for failing to find the cause of Toriello-Carey syndrome. © 2016 Wiley Periodicals, Inc.
Topics: Agenesis of Corpus Callosum; Chromosome Aberrations; Craniofacial Abnormalities; Female; Genetic Association Studies; Heart Defects, Congenital; Humans; Limb Deformities, Congenital; Male; Phenotype; Pierre Robin Syndrome; Urogenital Abnormalities
PubMed: 27510950
DOI: 10.1002/ajmg.a.37735 -
The Journal of Craniofacial Surgery Mar 2018The Pierre Robin sequence (PRS) has been defined as the presence of micrognathia, glossoptosis, and respiratory obstruction in the neonatal period. Since its original... (Review)
Review
BACKGROUND
The Pierre Robin sequence (PRS) has been defined as the presence of micrognathia, glossoptosis, and respiratory obstruction in the neonatal period. Since its original description, different therapeutic approaches have been proposed obtaining different success rates, but there is no consensus about its management.
METHODS
A literature review was conducted in PubMed, Embase, and Cochrane databases, for the period of January,1985 to November, 2016. A number of 23 articles resulting from clinical studies, discussing diagnostic tests or therapeutic approaches, and directly or indirectly comparing diagnostic or treatment modalities were selected and assessed using the GRADE methodology.
RESULTS
After reviewing and analyzing the selected articles, an evidence-based algorithm for diagnosis and integral management of PRS patients was designed.
CONCLUSION
Based on the anatomical principles and natural evolution of PRS, the clinical scenario must be evaluated thoroughly as a dynamic event to develop a management sequence that minimizes morbidity and mortality and accelerates patients' reinsertion to normal life.
Topics: Airway Obstruction; Glossoptosis; Humans; Micrognathism; Pierre Robin Syndrome
PubMed: 29215441
DOI: 10.1097/SCS.0000000000004178 -
Clinics in Perinatology Dec 2018Pierre Robin sequence (PRS) is a congenital condition characterized by the presence of micrognathia, glossoptosis, and cleft palate. PRS has varying effects on airway... (Review)
Review
Pierre Robin sequence (PRS) is a congenital condition characterized by the presence of micrognathia, glossoptosis, and cleft palate. PRS has varying effects on airway patency and feeding ability and thus has a broad range of management options. The purpose of this article is to describe the nature of the background of the condition and address the previous and current trends in diagnosis and management of PRS.
Topics: Abnormalities, Multiple; Airway Management; Airway Obstruction; Female; Humans; Infant, Newborn; Male; Perinatology; Pierre Robin Syndrome; Postpartum Period; Prognosis; Plastic Surgery Procedures; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 30396414
DOI: 10.1016/j.clp.2018.07.009 -
Pediatric Pulmonology Aug 2022Robin sequence is characterized by mandibular retrognathia, airway obstruction, and glossoptosis; 80%-90% also have a cleft palate. Various treatment approaches exist,...
Robin sequence is characterized by mandibular retrognathia, airway obstruction, and glossoptosis; 80%-90% also have a cleft palate. Various treatment approaches exist, and although controlled studies are rare, objective assessment of treatment outcomes that address the leading clinical issues, namely obstructive sleep apnea and failure to thrive, are essential. Sleep-disordered breathing may be detected using cardiorespiratory polygraphy or polysomnography. Pulse oximetry alone may miss infants with frequent obstructive apneas, yet no intermittent hypoxia. Among conservative treatment options, the Tubingen Palatal Plate with a velar extension shifting the tongue base forward is the only approach that corrects the underlying anatomy and that has undergone appropriate evaluation. Of the surgical treatment options, which are not necessarily the first line of therapy, mandibular distraction osteogenesis (MDO) is effective and has been most extensively adopted. Notwithstanding, it is puzzling that MDO is frequently used in some countries, yet hardly ever in others, despite similar tracheostomy rates. Thus, prospective multicenter studies with side-by-side comparisons aimed at identifying an optimal treatment paradigm for this potentially life-threatening condition are urgently needed.
Topics: Airway Obstruction; Humans; Infant; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Prospective Studies; Retrospective Studies; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Treatment Outcome
PubMed: 33580741
DOI: 10.1002/ppul.25317 -
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.Nature Genetics May 2023Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity to transcription factor (TF) dosage. Reconciling such observations...
Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity to transcription factor (TF) dosage. Reconciling such observations requires quantitative studies of TF dosage effects at trait-relevant ranges, largely lacking so far. TFs play central roles in both normal-range and disease-associated variation in craniofacial morphology; we therefore developed an approach to precisely modulate TF levels in human facial progenitor cells and applied it to SOX9, a TF associated with craniofacial variation and disease (Pierre Robin sequence (PRS)). Most SOX9-dependent regulatory elements (REs) are buffered against small decreases in SOX9 dosage, but REs directly and primarily regulated by SOX9 show heightened sensitivity to SOX9 dosage; these RE responses partially predict gene expression responses. Sensitive REs and genes preferentially affect functional chondrogenesis and PRS-like craniofacial shape variation. We propose that such REs and genes underlie the sensitivity of specific phenotypes to TF dosage, while buffering of other genes leads to robust, nonlinear dosage-to-phenotype relationships.
Topics: Humans; SOX9 Transcription Factor; Pierre Robin Syndrome; Gene Expression Regulation; Regulatory Sequences, Nucleic Acid; Phenotype
PubMed: 37024583
DOI: 10.1038/s41588-023-01366-2 -
Anesthesia and Analgesia Aug 2014The clinical triad of micrognathia (small mandible), glossoptosis (backward, downward displacement of the tongue), and airway obstruction defines the Pierre Robin... (Review)
Review
The clinical triad of micrognathia (small mandible), glossoptosis (backward, downward displacement of the tongue), and airway obstruction defines the Pierre Robin sequence (PRS). Airway obstruction and respiratory distress are clinical hallmarks. Patients may present with stridor, retractions, and cyanosis. Severe obstruction results in feeding difficulty, reflux, and failure to thrive. Treatment options depend on the severity of airway obstruction and include prone positioning, nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis, and tracheostomy. The neonate and infant with PRS require care from multiple specialists including anesthesiology, plastic surgery, otolaryngology, speech pathology, gastroenterology, radiology, and neonatology. The anesthesiologist involved in the care of patients with PRS will interface with a multidisciplinary team in a variety of clinical settings. This perioperative review is a collaborative effort from multiple specialties including anesthesiology, plastic surgery, otolaryngology, and speech pathology. We will discuss the background and clinical presentation of patients with PRS, as well as some of the controversies regarding their care.
Topics: Airway Obstruction; Anesthesia; Cooperative Behavior; Feeding Methods; Humans; Infant; Infant, Newborn; Interdisciplinary Communication; Otorhinolaryngologic Surgical Procedures; Patient Care Team; Patient Positioning; Perioperative Care; Pierre Robin Syndrome; Plastic Surgery Procedures; Respiratory Insufficiency; Treatment Outcome
PubMed: 25046788
DOI: 10.1213/ANE.0000000000000301 -
International Journal of Pediatric... Apr 2015Pierre Robin sequence is not a rare condition and paediatric specialists caring for respiratory related issues are likely to encounter cases in their practice. There... (Review)
Review
Pierre Robin sequence is not a rare condition and paediatric specialists caring for respiratory related issues are likely to encounter cases in their practice. There have been a few recent reviews on the topic, mostly focusing on the surgical interventions performed for cases with severe airway obstruction. In the present review, we will highlight the different challenges that remain today in the global evaluation of infants afflicted with this condition through a thorough review of the medical literature, giving the clinician a full scope of the disease and of the various management options. The need for an improved objective evaluation of airway obstruction and for a better classification will be emphasized. We are therefore proposing a novel classification scheme that will better account for respiratory and feeding difficulties in these infants. Finally, many knowledge gaps persist regarding this condition, underlining the necessity for further research both in the genetic field and regarding the outcome of therapy.
Topics: Airway Obstruction; Child; Humans; Infant; Lip; Male; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Tongue
PubMed: 25704848
DOI: 10.1016/j.ijporl.2015.01.035 -
The Cleft Palate-craniofacial Journal :... Nov 2023To characterize the prevalence and presentation of laryngomalacia and efficacy of supraglottoplasty (SGP) in a cohort of patients with Pierre Robin Sequence (PRS).
OBJECTIVE
To characterize the prevalence and presentation of laryngomalacia and efficacy of supraglottoplasty (SGP) in a cohort of patients with Pierre Robin Sequence (PRS).
DESIGN
Retrospective cohort study.
SETTING
Tertiary-care children's hospital.
PATIENTS, PARTICIPANTS
Consecutive patients with PRS born between January 2010 and June 2018.
MAIN OUTCOME MEASURES
Chart review included demographics, comorbid airway obstruction including laryngomalacia, timing of surgical interventions, clinical symptoms, sleep study data, and modified barium swallow study data.
UNLABELLED
126 patients with PRS were included; 54% had an associated syndrome, 64% had an overt cleft palate, and 22% had a submucous cleft palate. 64/126 were noted to have laryngomalacia (51%). Patients with concurrent PRS and laryngomalacia were significantly more likely to have submucous cleft palate ( = .005) and present with aspiration with cough ( = .01) compared to patients with PRS without laryngomalacia. Patients with concurrent laryngomalacia and PRS showed a significant decrease in apnea-hypopnea index (AHI) and obstructive AHI (OAHI) after mandibular distraction, with a median AHI and OAHI improvement of 22.3 ( = .001) and 19.8 ( = .002), respectively. Patients who underwent only SGP did not show significant improvement in these parameters ( = .112 for AHI, = .064 for OAHI).
UNLABELLED
The prevalence of laryngomalacia in our PRS cohort was 51%. Patients with PRS and laryngomalacia are more likely to present with overt aspiration compared to patients with PRS without laryngomalacia. These data support that laryngomalacia does not appear to be a contraindication to pursuing MDO.
Topics: Child; Humans; Infant; Retrospective Studies; Laryngomalacia; Pierre Robin Syndrome; Prevalence; Cleft Palate; Airway Obstruction; Osteogenesis, Distraction; Treatment Outcome
PubMed: 35668613
DOI: 10.1177/10556656221107298 -
Atlas of the Oral and Maxillofacial... Mar 2019
Review
Topics: Airway Obstruction; Child; Craniosynostoses; Humans; Mandibular Advancement; Mandibular Prosthesis; Osteotomy, Le Fort; Patient Care Team; Pierre Robin Syndrome; Prosthesis Design; Sleep Apnea, Obstructive
PubMed: 30717926
DOI: 10.1016/j.cxom.2018.11.001 -
The Cleft Palate-craniofacial Journal :... Mar 2020Children with Pierre Robin sequence (PRS) and cleft palate have a high rate of velopharyngeal insufficiency (VPI) following primary palatoplasty. Our purpose was to...
OBJECTIVE
Children with Pierre Robin sequence (PRS) and cleft palate have a high rate of velopharyngeal insufficiency (VPI) following primary palatoplasty. Our purpose was to determine the long-term incidence of speech-correcting surgeries (SCSs) and fistula rates in PRS after primary palatoplasty and the influence of possible causal factors.
DESIGN
A retrospective single-center, observational chart review study.
PARTICIPANTS
After exclusion, the study cohort comprised 78 nonsyndromic PRS children (48 females) born between 1990 and 2009 and treated at the Cleft Palate and Craniofacial Center of Helsinki University Hospital, Finland. Causal factors included gender, surgeon, age at primary palatoplasty, surgical technique, airway obstruction in infancy, and cleft severity. We analyzed the outcome at age 8 years and at data retrieval, with a median follow-up of 14 years (range: 8-27 years).
RESULTS
Thirty-four (43.6%) children received SCS by age 8 years, and of the 19 (24.4%) postoperative fistulas, 6 (7.7%) underwent closure. At data retrieval, 37 (47.4%) children had undergone SCS and 8 (10.3%) had a fistula closure. Median age at SCS was 6 years. The results showed no significant association for gender, surgeon, age at primary palatoplasty, surgical technique, cleft severity, or airway obstruction in infancy regarding incidence of SCS, fistulas, or repaired fistulas.
CONCLUSION
Pierre Robin sequence in children is associated with a high incidence of SCS and fistula formation, which necessitates accurate clinical follow-up and observation of speech development. The development of VPI in PRS is complex and most likely involving multiple factors.
Topics: Adolescent; Adult; Child; Cleft Palate; Female; Finland; Fistula; Humans; Incidence; Pierre Robin Syndrome; Postoperative Complications; Retrospective Studies; Speech; Treatment Outcome; Velopharyngeal Insufficiency; Young Adult
PubMed: 31530001
DOI: 10.1177/1055665619874991