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Clinics in Plastic Surgery Apr 2019Pierre Robin sequence consists of clinical triad of micrognathia, glossoptosis, and airway compromise with variable inclusion of cleft palate. Evaluation of airway... (Review)
Review
Pierre Robin sequence consists of clinical triad of micrognathia, glossoptosis, and airway compromise with variable inclusion of cleft palate. Evaluation of airway obstruction includes physical examination, polysomnography for obstruction events, and a combination of nasoendoscopy and bronchoscopy to search for synchronous obstructive lesions. A multidisciplinary approach is required given the high rate of syndromic disease. Management of airway obstruction and feeding starts with nonsurgical maneuvers, such as prone and lateral positioning, nasopharyngeal stenting, and continuous positive airway pressure. Surgical management includes mandibular distraction and tongue-lip adhesion. Subglottic obstruction and central sleep apnea may best be treated with tracheostomy.
Topics: Airway Obstruction; Female; Humans; Infant; Male; Mandible; Mouth; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Tracheostomy
PubMed: 30851756
DOI: 10.1016/j.cps.2018.11.010 -
Der Pathologe Jul 2017Cleft lip and palate (CLP) represents a group of malformations of unknown etiology but similar phenotypes. This implies consequences for the diagnostics, therapy,... (Review)
Review
BACKGROUND
Cleft lip and palate (CLP) represents a group of malformations of unknown etiology but similar phenotypes. This implies consequences for the diagnostics, therapy, prevention, prognosis and risk estimation.
OBJECTIVE
Definition of CLP subtypes and the embryonic development, clarification of correlations and differences between entities using epidemiological data, overview of the present state of genetic analyses, correlation to syndromes, sequences and associations and resulting consequences for clinical practice.
MATERIAL AND METHODS
Update on embryological development of the face, summary of epidemiological and genetic studies and considerations on pedopathological and forensic aspects.
RESULTS
Syndromic and non-syndromic CLP exhibit different and highly variable etiologies, therapeutic needs and prognosis. A thorough understanding is mandatory to distinguish between the different subgroups. In addition to specific aspects of CLP for the pediatric (forensic) pathologist this article provides an overall view of the topic which aims to help understand these malformations.
Topics: Cleft Lip; Cleft Palate; Cross-Sectional Studies; Female; Forensic Medicine; Gingiva; Humans; Infant, Newborn; Lip; Palate; Pierre Robin Syndrome; Pregnancy; Prognosis; Risk Factors; Statistics as Topic
PubMed: 28653248
DOI: 10.1007/s00292-017-0313-x -
Cell Stem Cell Nov 2020Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence (PRS)....
Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a human stem cell differentiation model, we identify two clusters of enhancers within the PRS-associated region that regulate SOX9 expression during a restricted window of facial progenitor development at distances up to 1.45 Mb. Enhancers within the 1.45 Mb cluster exhibit highly synergistic activity that is dependent on the Coordinator motif. Using mouse models, we demonstrate that PRS phenotypic specificity arises from the convergence of two mechanisms: confinement of Sox9 dosage perturbation to developing facial structures through context-specific enhancer activity and heightened sensitivity of the lower jaw to Sox9 expression reduction. Overall, we characterize the longest-range human enhancers involved in congenital malformations, directly demonstrate that PRS is an enhanceropathy, and illustrate how small changes in gene expression can lead to morphological variation.
Topics: Cell Differentiation; Humans; Mutation; Neural Crest; Pierre Robin Syndrome; Regulatory Sequences, Nucleic Acid; SOX9 Transcription Factor
PubMed: 32991838
DOI: 10.1016/j.stem.2020.09.001 -
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 -
Atlas of the Oral and Maxillofacial... Mar 2022
Review
Topics: Airway Obstruction; Humans; Infant; Infant, Newborn; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Treatment Outcome
PubMed: 35256110
DOI: 10.1016/j.cxom.2021.11.001 -
Seminars in Fetal & Neonatal Medicine Dec 2021The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many... (Review)
Review
The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. These syndromes will be described in detail. Diagnostic and therapeutic options will be discussed.
Topics: Abnormalities, Multiple; Craniosynostoses; Humans; Pierre Robin Syndrome
PubMed: 34561177
DOI: 10.1016/j.siny.2021.101290 -
Clinics in Plastic Surgery Jul 2021Pierre Robin sequence is defined by the clinical triad: mandibular hypoplasia, glossoptosis, and airway obstruction. Mandibular distraction osteogenesis (MDO) is a... (Review)
Review
Pierre Robin sequence is defined by the clinical triad: mandibular hypoplasia, glossoptosis, and airway obstruction. Mandibular distraction osteogenesis (MDO) is a standard treatment of Robin sequence associated with severe airway obstruction and is the only intervention that directly corrects the underlying anatomic pathologic condition. Compared with tongue-lip adhesion, MDO has demonstrated more success in treating airway obstruction in infants with Pierre Robin sequence, including patients with syndromic diagnoses and concomitant anomalies. This article provides a current, comprehensive review of neonatal mandibular distraction and offers treatment guidelines based on a combined surgical experience of more than 400 patients.
Topics: Airway Obstruction; Humans; Infant, Newborn; Mandible; Orthognathic Surgical Procedures; Osteogenesis, Distraction; Pierre Robin Syndrome; Postoperative Complications; Treatment Outcome
PubMed: 34051891
DOI: 10.1016/j.cps.2021.03.005 -
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 -
Pediatric Neurology Apr 2023The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as...
BACKGROUND
The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as a predisposition to present changes in growth and neuropsychomotor development in the first years of life.
OBJECTIVE
The aims were to evaluate and associate the neuropsychomotor development of zero- to 12-month-old children with Pierre Robin sequence (PRS) in the personal-social, fine motor-adaptive, language, and gross motor aspects.
METHODS
The subjects of the study were 17 infants of both sexes with PRS admitted to the special care unit (SCU) of a reference hospital in the interior of the state of São Paulo, Brazil, in the age range of 20 days to 263 days. Developmental assessments were performed using the Denver Development Screening Test II. The evaluations were carried out in the SCU, with duration of 30 minutes each. Statistical analysis was descriptive using the Mann-Whitney test, two-proportion equality test, and Spearman correlation. The level of significance was set at 0.05.
RESULTS
According to Denver Development Screening Test II, median 78.5 of the babies were at risk for developmental delay identified by the Denver II Test (n = 14, 82.4%). For the developmental areas analyzed by the test there was statistically significant difference in language area.
CONCLUSION
The babies aged up to 12 months with PRS in this study presented risks for delay in neuropsychomotor development in language, gross motor, fine motor-adaptive, and personal-social aspects, and this finding should be considered to set goals in family orientation and intervention.
Topics: Infant; Infant, Newborn; Male; Child; Female; Humans; Aged; Pierre Robin Syndrome; Brazil; Language; Retrospective Studies
PubMed: 36774683
DOI: 10.1016/j.pediatrneurol.2023.01.010 -
American Journal of Medical Genetics.... Sep 2023Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in...
Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.
Topics: Pregnancy; Female; Humans; Pierre Robin Syndrome; Abnormalities, Multiple; Chromosome Aberrations; Connective Tissue Diseases; France
PubMed: 37477275
DOI: 10.1002/ajmg.a.63344