scholarly journals Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

2012 ◽  
Vol 13 (1) ◽  
Author(s):  
Tom B Davidson ◽  
Pedro A Sanchez-Lara ◽  
Linda M Randolph ◽  
Mark D Krieger ◽  
Shi-Qi Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Pierre Robin Sequence ◽  
Review Of The Literature ◽  
Neurofibromatosis 2 ◽  
Robin Sequence ◽  
Facial Development ◽  
Pierre Robin

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.

Pierre Robin sequence and double aortic arch: a case report

2005 ◽  
Vol 69 (1) ◽  
pp. 105-110 ◽  
Author(s):  
Edward T. Waters ◽  
James P. Oberman ◽  
Abhik K. Biswas
Keyword(s):  
Case Report ◽  
Aortic Arch ◽  
Double Aortic Arch ◽  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Pierre Robin

A Case Report of Absent Epiglottis in Children with Nager Syndrome: Its Impact on Swallowing

2017 ◽  
Vol 54 (6) ◽  
pp. 754-757 ◽  
Author(s):  
Sok Yan Tay ◽  
Woei Shyang Loh ◽  
Thiam Chye Lim
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Report ◽  
Pierre Robin Sequence ◽  
Literature Report ◽  
Robin Sequence ◽  
Aspiration Risk ◽  
Nager Syndrome ◽  
Pierre Robin

Objective This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Absent epiglottis has previously been described in children with Pierre Robin sequence and other syndromes. Conclusion The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.

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