The Genetic Basis of the Pierre Robin Sequence

2006 ◽  
Vol 43 (2) ◽  
pp. 155-159 ◽  
Author(s):  
Linda P. Jakobsen ◽  
Mary A. Knudsen ◽  
James Lespinasse ◽  
Carmen García Ayuso ◽  
Carmen Ramos ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Genetic Basis ◽  
Mendelian Inheritance ◽  
Potential Candidate ◽  
Pierre Robin Sequence ◽  
Gene Map ◽  
Robin Sequence ◽  
Pierre Robin

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.

How Does Hypodontia Compare in Nonsyndromic Pierre Robin Sequence Versus Isolated Cleft Palate and Isolated Cleft Lip?

2021 ◽  
pp. 105566562110177
Author(s):  
Maria Dillon ◽  
Madhavi Seshu ◽  
Norah Flanigan ◽  
Susana Dominguez-Gonzalez
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Sequence Versus ◽  
Group 2 ◽  
Alder Hey ◽  
Isolated Cleft Palate ◽  
Pierre Robin ◽  
Group 1

Objective: To assess the prevalence and patterns of hypodontia in nonsyndromic Pierre Robin sequence (PRS) and compare it with hypodontia in nonsyndromic isolated cleft palates and isolated cleft lips. Design: Retrospective cohort study. Setting: Alder Hey Children’s Hospital, United Kingdom. Patients: Patients with nonsyndromic PRS (group 1), isolated cleft palate (group 2), and isolated cleft lip (group 3). Main Outcome Measures: Hypodontia in the permanent dentition assessed from orthopantomographs. Results: A total of 154 patients were included. Group 1 had the highest incidence of hypodontia with 47% having at least one tooth congenitally absent. Groups 2 and 3 had reduced rates of hypodontia with 27% and 19% of the groups missing teeth, respectively; 93% of cases of hypodontia in group 1 involved the absence of at least one second premolar. Of these patients, there was found to be bilateral agenesis of second premolars in 50% of cases. Conclusions: Patients with PRS and cleft palates are more likely to have hypodontia than those with isolated cleft palates or unilateral cleft lips. Patients with PRS have more severe hypodontia than those with isolated cleft palates or unilateral cleft lips. Bilateral agenesis of lower second premolars is a commonly seen pattern among patients with PRS. In this large UK study, a similar prevalence and pattern of hypodontia to other nonsyndromic PRS populations worldwide has been demonstrated.

scholarly journals Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome

2018 ◽  
Vol 56 (1) ◽  
pp. 123-126 ◽  
Author(s):  
Alexa Robbins ◽  
Yuri A. Zarate ◽  
Larry D. Hartzell
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Pierre Robin Sequence ◽  
Van Der Woude Syndrome ◽  
Robin Sequence ◽  
Heterozygous Variant ◽  
Interferon Regulatory Factor 6 ◽  
History Of ◽  
Pierre Robin

This report describes the presentation of a newborn male with circumferential tongue-palate fusion associated with cleft palate and alveolar bands. After intraoral adhesions lysis, the patient was diagnosed with Pierre Robin sequence. A family history of cleft lip and palate was noted, and interferon regulatory factor 6 ( IRF6) sequencing revealed a heterozygous variant, confirming the diagnosis of van der Woude syndrome. The disruption of IRF6 resulted in abnormal orofacial development including micrognathia and intraoral adhesions as well as tongue-palate fusion, then resulting in glossoptosis with airway obstruction and cleft palate.

Cleft Palate, Cleft Lip, and Pierre Robin Sequence

2018 ◽  
Author(s):  
Michelle Keese Harvey ◽  
Ihab Ayad
Keyword(s):  
Cleft Palate ◽  
Airway Obstruction ◽  
Cleft Lip ◽  
Anesthetic Management ◽  
Treatment Options ◽  
Pierre Robin Sequence ◽  
Respiratory Compromise ◽  
Feeding Difficulties ◽  
Robin Sequence ◽  
Pierre Robin

Pierre Robin sequence (PRS) is characterized by micrognathia, glossoptosis, and airway obstruction. Often associated with cleft palate, PRS is usually an isolated finding but is associated with a syndrome one-third of the time. The micrognathia and glossoptosis lead to airway obstruction, respiratory compromise, and feeding difficulties. Severe cases and prolonged and repeated airway obstruction and respiratory distress can lead to failure to thrive, hypoxemia, pulmonary hypertension, cardiac arrest, and death. Treatment options for the management of airway obstruction in PRS depends on the degree of obstruction and any associated comorbidities and range from noninvasive respiratory support to surgical correction of the physical defect. Patients with PRS should be considered as challenging to ventilate and intubate, and the practitioner should be well prepared for the possibility of difficulty with airway management. Anesthetic management is tailored to minimize postoperative upper airway obstruction and avoid disruption of the integrity of the surgical repair.

scholarly journals Methadone, Pierre Robin sequence and other congenital anomalies: case–control study

2019 ◽  
Vol 105 (2) ◽  
pp. 151-157
Author(s):  
Brian Cleary ◽  
Maria Loane ◽  
Marie-Claude Addor ◽  
Ingeborg Barisic ◽  
Hermien E K de Walle ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Population Based ◽  
Pierre Robin Sequence ◽  
Opioid Use ◽  
Robin Sequence ◽  
Risk Increase ◽  
Increased Risk ◽  
Pierre Robin ◽  
Control Study

ObjectiveMethadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin sequence (PRS), a rare craniofacial anomaly. We assessed the association between gestational methadone exposure and PRS.Design/settingThis case-malformed control study used European Surveillance of Congenital Anomalies population-based registries in Ireland, the Netherlands, Italy, Switzerland, Croatia, Malta, Portugal, Germany, Wales, Norway and Spain, 1995–2011.PatientsCases included PRS based on International Classification of Disease (ICD), Ninth Edition-British Paediatric Association (BPA) code 75 603 or ICD, Tenth Edition-BPA code Q8708. Malformed controls were all non-PRS anomalies, excluding genetic conditions, among live births, fetal deaths from 20 weeks’ gestation and terminations of pregnancy for fetal anomalies. An exploratory analysis assessed the association between methadone exposure and other congenital anomalies (CAs) excluding PRS. Methadone exposure was ascertained from medical records and maternal interview.ResultsAmong 87 979 CA registrations, there were 127 methadone-exposed pregnancies and 336 PRS cases. There was an association between methadone exposure and PRS (OR adjusted for registry 12.3, 95% CI 5.7 to 26.8). In absolute terms, this association reflects a risk increase from approximately 1–12 cases per 10 000 births. A raised OR was found for cleft palate (adjusted OR 5.0, 95% CI 2.7 to 9.2).ConclusionsThese findings suggest that gestational methadone exposure is associated with PRS. The association may be explained by unmeasured confounding factors. The small increased risk of PRS in itself does not alter the risk–benefit balance for gestational methadone use. The association with cleft palate, a more common CA, should be assessed with independent data.

scholarly journals Craniofacial Morphology in Japanese Patients with the Pierre Robin Sequence and Isolated Cleft Palate

2005 ◽  
Vol 17 (2) ◽  
pp. 105-113
Author(s):  
Yuichi NISHIMOTO ◽  
Yuko TOI ◽  
Tetsutaro YAMAGUCHI ◽  
Ayako NAGASHIMA ◽  
Kan NAKAJIMA ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Japanese Patients ◽  
Craniofacial Morphology ◽  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Isolated Cleft Palate ◽  
Pierre Robin

Pediatric Feeding in Infants With Pierre Robin Sequence Following Mandibular Distraction Osteogenesis

2016 ◽  
Vol 1 (13) ◽  
pp. 5-9
Author(s):  
Kelly Mabry
Keyword(s):  
Cleft Palate ◽  
Airway Obstruction ◽  
Distraction Osteogenesis ◽  
Pierre Robin Sequence ◽  
Mandibular Distraction ◽  
Post Surgery ◽  
Feeding Experience ◽  
Robin Sequence ◽  
Mandibular Distraction Osteogenesis ◽  
Pierre Robin

Pierre Robin sequence (PRS) causes anomalies that can include micrognathia, cleft palate, and glossoptosis. At birth, infants typically present with a small mandible (micrognathia) which displaces the tongue posteriorly and causes breathing difficulties due to airway obstruction. A large, U-shaped cleft palate is often associated with this condition and the combined phenotype can be seen in isolation or in conjunction with a syndrome. In the neonatal period, management of PRS focuses on airway obstruction and feeding through conservative positioning techniques that are often successful. However, infants that do not respond to conservative measures require surgical intervention such as tongue-lip adhesion, tracheostomy, or mandibular distraction osteogenesis (MDO) to manage their airway. While each of these surgical procedures have been used effectively, the process of MDO has become the definitive technique to surgically correct the airway obstruction in PRS by lengthening the mandible, which also brings the tongue forward and out of the airway. Feeding intervention is directly related to the resolution of micrognathia which in turn advances the tongue base anteriorly, resolving the glossoptosis and airway obstruction. The infant's feeding experience, including pre-surgery and post-surgery considerations, are discussed.

Do Patients With Pierre Robin Sequence Have Worse Outcomes After Cleft Palate Surgery?

2013 ◽  
Vol 71 (3) ◽  
pp. 292-296 ◽  
Author(s):  
Carrie Stransky ◽  
Marten Basta ◽  
Cynthia Solot ◽  
Marilyn Cohen ◽  
David W. Low ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Pierre Robin
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