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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 -
The Journal of Craniofacial Surgery Jun 2024There is currently a lack of scientific bibliometric analyses in the field of Pierre Robin sequence (PRS). Pierre Robin sequence is known for its clinical triad of...
There is currently a lack of scientific bibliometric analyses in the field of Pierre Robin sequence (PRS). Pierre Robin sequence is known for its clinical triad of micrognathia, glossoptosis, airway obstruction, and possible secondary cleft palate. These defects can lead to upper airway obstruction, sleep apnea, feeding difficulties, affect an individual's growth and development, education level, and in severe cases can be life-threatening. Through analysis of literature retrieved from the Web of Science Core Collection (WoSCC) database using Results Analysis and Citation Report and Citespace software, 933 original articles and reviews were included after manual screening. The overall trend for the number of annual publications and citations was increasing. On the basis of the analysis, airway evaluation and treatment, mandibular distraction osteogenesis (MDO), as well as descriptions of PRS characteristics have been the focus of research in this field. In addition, with advances in new technologies such as gene sequencing and expanding understanding of diseases among researchers, research on genetics and etiology related to PRS has become a growing trend.
PubMed: 38830018
DOI: 10.1097/SCS.0000000000010186 -
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 -
The Journal of Craniofacial Surgery May 2024The Pierre Robin sequence (PRS) is characterized by the presence of micrognathia, glossoptosis, and respiratory obstruction during the neonatal period, its prompt...
BACKGROUND
The Pierre Robin sequence (PRS) is characterized by the presence of micrognathia, glossoptosis, and respiratory obstruction during the neonatal period, its prompt recognition allows to mitigate the associated morbidity and mortality. A diagnosis and treatment algorithm was previously proposed based on data from the literature to guide therapeutic efforts; therefore, it was proposed to carry out a new search for relevant evidence to update or complement it.
METHODS
A literature review of the subject was conducted in PubMed, Embase, and Cochrane databases, corresponding to the period between November 2016 and September 2021. Using the GRADE methodology, 38 articles from different clinical studies that discussed diagnostic tests or therapeutic approaches, directly or indirectly compared, were selected and evaluated.
RESULTS
After evaluating and analyzing the selected articles, the new information was incorporated into an updated algorithm according to the most recent evidence found for the diagnosis and comprehensive management of patients with PRS.
CONCLUSION
To date, there is no consensus in the literature on the treatment of patients with PRS nor are there multicenter studies comparing different management modalities. The indications to proceed with surgical strategies do not present changes with respect to the previous article. Nutritional monitoring is the main objective, and the study of oral feeding is essential in all scenarios.
PubMed: 38747595
DOI: 10.1097/SCS.0000000000010240 -
Oral Diseases Sep 2023This study aims to review the pathogenic mechanisms and clinical manifestations in syndromes with tooth agenesis (TA). Online Mendelian Inheritance in Man and PubMed... (Review)
Review
This study aims to review the pathogenic mechanisms and clinical manifestations in syndromes with tooth agenesis (TA). Online Mendelian Inheritance in Man and PubMed databases were searched for a comprehensive review. Previous publications reported complicated aetiologies of syndromic TA. Gene mutations in conserved signalling pathways (WNT, EDA, SHH, FGF, and TGF-β/BMP) and crucial molecules (PAX9, PIXT2, IRF6, the p53 family, and subunits of RNA polymerase III) are the main causes of syndromic TA. In the process of odontogenesis, antagonistic or synergistic interactions are demonstrated in patients and murine models. Mutations in some genes (WNT10A, WNT10B, AXIN2, ANTXR1, MSX1, EDA, EDAR, and EDARADD) can result in both syndromic and isolated TA. In addition, chromosomal anomalies are also responsible for syndromic TA (Down syndrome, Wolf-Hirschhorn syndrome, Williams syndrome, and Pierre Robin sequence). The causes and manifestations of syndromic TA are highly complex, and this constitutes a clinical challenge. Mutations in signalling pathways and crucial molecules as well as chromosomal anomalies are responsible for syndromic TA. And there are overlaps between the causative genes of syndromic and isolated TA.
Topics: Animals; Mice; Syndrome; Anodontia; Mutation; Chromosome Aberrations; Signal Transduction; Interferon Regulatory Factors
PubMed: 36219525
DOI: 10.1111/odi.14402 -
The Cleft Palate-craniofacial Journal :... Aug 2023Mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP) may each have a role in effectively treating tongue-based airway obstruction...
Mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP) may each have a role in effectively treating tongue-based airway obstruction (TBAO) in Robin sequence (RS). This study describes longitudinal outcomes after treatment of TBAO with CPAP and/or MDO. Retrospective cohort study. Tertiary Pediatric Hospital. A total of 129 patients with RS treated with CPAP and/or MDO from 2009 to 2019 were reviewed. Subjects receiving baseline and at least one follow-up polysomnogram were included. 55 who underwent MDO ± CPAP and 9 who received CPAP-only treatment were included. Patient characteristics, feeding, and polysomnographic data were compared and generalized linear mixed modeling performed. Baseline obstructive apnea-hypopnea index (OAHI) was greater in the MDO-treated group (median x˜ = 33.7 [interquartile range: 26.5-54.5] than the CPAP-treated group (x˜ = 20.3[13.3-36.7], ≤ .033). There was significant reduction in OAHI following treatment with CPAP and MDO modalities, ≤ .001. SpO nadir after MDO was lower in syndromic (x˜ = 85.0[81.0-87.9] compared to nonsyndromic patients (x˜ = 88.4[86.8-90.5], ≤ .005.) CPAP was utilized following MDO in 2/24 (8.3%) of nonsyndromic and 16/31 (51.6%) of syndromic subjects ( ≤ .001,) for a median duration of 414 days. Three patients (5%) underwent tracheostomy, all had MDO. Nasogastric tube feeding at hospital discharge was more common following MDO (44, 80%) than CPAP-only (4, 44.4%, ≤ .036), but did not differ at 6-month follow-up ( ≥ .376). CPAP appears to effectively reduce obstructive apnea in patients with RS and moderate TBAO and be a useful adjunct in syndromic patients following MDO with improved but persistent obstruction.
Topics: Humans; Child; Infant; Retrospective Studies; Continuous Positive Airway Pressure; Pierre Robin Syndrome; Osteogenesis, Distraction; Treatment Outcome; Airway Obstruction; Sleep Apnea, Obstructive; Combined Modality Therapy; Mandible
PubMed: 35352571
DOI: 10.1177/10556656221088173