María de la Paz Barboza-Argüello, Adriana Benavides-Lara
Background
Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021.
Methods
A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996–2009 as referent and 2010–2021) were estimated using Poisson regression and compared using Wald's chi-square tests (α ≤.05).
Results
We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (p < .05). When comparing the OFC's prevalence of the subperiod 2010–2021 (11.86 per 10,000) with 1996–2009 (9.36 per 10,000) the prevalence ratio was 1.3 (p < .01): 1.1 (p < .05) for isolated, 1.6 (p < .01) for multiple non-syndromic, and 3.3 (p < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes.
Conclusion
The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system.
{"title":"Orofacial clefts in Costa Rica, 1996–2021: Analysis of surveillance data","authors":"María de la Paz Barboza-Argüello, Adriana Benavides-Lara","doi":"10.1002/bdr2.2387","DOIUrl":"10.1002/bdr2.2387","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996–2009 as referent and 2010–2021) were estimated using Poisson regression and compared using Wald's chi-square tests (<i>α</i> ≤.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (<i>p</i> < .05). When comparing the OFC's prevalence of the subperiod 2010–2021 (11.86 per 10,000) with 1996–2009 (9.36 per 10,000) the prevalence ratio was 1.3 (<i>p</i> < .01): 1.1 (<i>p</i> < .05) for isolated, 1.6 (<i>p</i> < .01) for multiple non-syndromic, and 3.3 (<i>p</i> < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 8","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chris Barnett, James Christiansen, Monica Mills, Jordyn Lord, Jared Parrish
Objectives
We assessed reporting misclassification for 12 critical congenital heart defects (CCHDs) identified through administrative diagnosis codes within a passive surveillance system. We measured the effect of misclassification on prevalence estimation. Lastly, we investigated a sample-based review strategy to estimate surveillance misclassification resulting from administrative diagnosis codes for case detection.
Methods
We received 419 reports of CCHDs between 2007 and 2018; 414 were clinically reviewed. We calculated confirmation probabilities to assess misclassification and adjust prevalence estimates. Random samples of reported cases were taken at proportions between 20% and 90% for each condition to assess sample bias. Sampling was repeated 1000 times to measure sample-estimate variability.
Results
Misclassification ranged from a low of 19% (n = 4/21) to a high of 84% (n = 21/25). Unconfirmed prevalence rates ranged between one and six cases per 10,000 live births, with some conditions significantly higher than national estimates. However, confirmed rates were either lower or comparable to national estimates.
Conclusion
Passive birth defect surveillance programs that rely on administrative diagnosis codes for case identification of CCHDs are subject to misclassification that bias prevalence estimates. We showed that a sample-based review could improve the prevalence estimates of 12 cardiovascular conditions relative to their unconfirmed prevalence rates.
{"title":"Measuring misclassification and sample bias in passive surveillance systems: Improving prevalence estimates of critical congenital heart defects in state-based passive surveillance systems","authors":"Chris Barnett, James Christiansen, Monica Mills, Jordyn Lord, Jared Parrish","doi":"10.1002/bdr2.2386","DOIUrl":"10.1002/bdr2.2386","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>We assessed reporting misclassification for 12 critical congenital heart defects (CCHDs) identified through administrative diagnosis codes within a passive surveillance system. We measured the effect of misclassification on prevalence estimation. Lastly, we investigated a sample-based review strategy to estimate surveillance misclassification resulting from administrative diagnosis codes for case detection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We received 419 reports of CCHDs between 2007 and 2018; 414 were clinically reviewed. We calculated confirmation probabilities to assess misclassification and adjust prevalence estimates. Random samples of reported cases were taken at proportions between 20% and 90% for each condition to assess sample bias. Sampling was repeated 1000 times to measure sample-estimate variability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Misclassification ranged from a low of 19% (<i>n</i> = 4/21) to a high of 84% (<i>n</i> = 21/25). Unconfirmed prevalence rates ranged between one and six cases per 10,000 live births, with some conditions significantly higher than national estimates. However, confirmed rates were either lower or comparable to national estimates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Passive birth defect surveillance programs that rely on administrative diagnosis codes for case identification of CCHDs are subject to misclassification that bias prevalence estimates. We showed that a sample-based review could improve the prevalence estimates of 12 cardiovascular conditions relative to their unconfirmed prevalence rates.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 8","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nandini Mukherjee, Elijah H. Bolin, Amna Qasim, Mohammed S. Orloff, Philip J. Lupo, Wendy N. Nembhard
Background
Prior studies report associations of maternal serum Lamin A, encoded by the LMNA gene, with fetal congenital heart disease (CHD). It is unknown whether DNA methylation (DNAm) of cytosine-phosphate-guanine (CpG) sites in LMNA impacts the CHD susceptibility.
Methods
We investigated the associations of LMNA DNAm with CHD using publicly available data of CHD cases (n = 197) and controls (n = 134) from the Gene Expression Omnibus repository. Peripheral blood DNAm was measured using Illumina 850 K BeadChip for cases and 450 K BeadChip for controls. We tested 31 LMNA CpGs to identify differences in DNAm between cases and controls using linear regression correcting for multiple testing with false discovery rate (FDR). In a case-only analysis, we tested the variations in LMNA DNAm between CHD subtypes. To identify the consistency of DNAm across tissue types we compared peripheral blood (n = 197) and heart tissue DNAm (n = 20) in CHD cases.
Results
After adjusting for age, sex, and cell types there were significant differences in 17 of the 31 LMNA CpGs between CHD cases and controls (FDR p ≤ .05). We identified lower DNAm of cg09820673 at 3′ UTR for hypoplastic left heart syndrome compared to other CHD subtypes. Three CpGs exhibited uniform DNAm in blood and heart tissues in cases. Eleven CpGs showed changes in the same direction in blood and heart tissues in cases compared to controls.
Conclusion
We identify statistically significant differences in LMNA DNAm between CHD cases and controls. Future studies should investigate the role of maternal LMNA DNAm in CHD development.
{"title":"DNA methylation of the Lamin A/C gene is associated with congenital heart disease","authors":"Nandini Mukherjee, Elijah H. Bolin, Amna Qasim, Mohammed S. Orloff, Philip J. Lupo, Wendy N. Nembhard","doi":"10.1002/bdr2.2381","DOIUrl":"10.1002/bdr2.2381","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prior studies report associations of maternal serum Lamin A, encoded by the <i>LMNA</i> gene, with fetal congenital heart disease (CHD). It is unknown whether DNA methylation (DNAm) of cytosine-phosphate-guanine (CpG) sites in <i>LMNA</i> impacts the CHD susceptibility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We investigated the associations of <i>LMNA</i> DNAm with CHD using publicly available data of CHD cases (<i>n</i> = 197) and controls (<i>n</i> = 134) from the Gene Expression Omnibus repository. Peripheral blood DNAm was measured using Illumina 850 K BeadChip for cases and 450 K BeadChip for controls. We tested 31 <i>LMNA</i> CpGs to identify differences in DNAm between cases and controls using linear regression correcting for multiple testing with false discovery rate (FDR). In a case-only analysis, we tested the variations in <i>LMNA</i> DNAm between CHD subtypes. To identify the consistency of DNAm across tissue types we compared peripheral blood (<i>n</i> = 197) and heart tissue DNAm (<i>n</i> = 20) in CHD cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>After adjusting for age, sex, and cell types there were significant differences in 17 of the 31 <i>LMNA</i> CpGs between CHD cases and controls (FDR <i>p</i> ≤ .05). We identified lower DNAm of cg09820673 at 3′ UTR for hypoplastic left heart syndrome compared to other CHD subtypes. Three CpGs exhibited uniform DNAm in blood and heart tissues in cases. Eleven CpGs showed changes in the same direction in blood and heart tissues in cases compared to controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We identify statistically significant differences in <i>LMNA</i> DNAm between CHD cases and controls. Future studies should investigate the role of maternal <i>LMNA</i> DNAm in CHD development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2381","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Blanca Rebeca Ibarra-Ibarra, Leonora Luna-Muñoz, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez
Background
Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500–2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations.
Objectives
To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors.
Methods
The study consisted of a case–control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10–1433 m) and moderate altitudes (1511–2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation.
Results
Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes.
Conclusions
Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.
{"title":"Moderate altitude as a risk factor for isolated congenital malformations. Results from a case–control multicenter–multiregional study","authors":"Blanca Rebeca Ibarra-Ibarra, Leonora Luna-Muñoz, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez","doi":"10.1002/bdr2.2335","DOIUrl":"10.1002/bdr2.2335","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500–2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study consisted of a case–control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10–1433 m) and moderate altitudes (1511–2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cem Karadeniz, Kaan Yıldız, Sedef Öksüz, Rüveyda Nur Keçici, Özgür Çoğulu
Introduction
Williams syndrome (WS) cases have been reported to have with 25–100 times greater increased risk of sudden cardiac death (SCD). SCD has been reported in cases without any evidence of structural cardiovascular anomalies. Wolff–Parkinson–White (WPW) syndrome is characterized by short PR interval and delta wave. Ventricular preexcitations can develop paroxysmal reentrant tachycardia through Kent bundle or less frequent atrial fibrillation and in some cases with accessory pathway effective refractory period (APERP) under 250 ms considered as risky and may lead to SCD. WS associated with WPW has not been reported before.
Case Report
An 11-year-old male who had been followed up with WS was referred to pediatric cardiology outpatient clinic with the complaint of palpitation. Electrocardiographic examination showed short PR interval and delta wave in the ECG consistent with WPW. He underwent electrophysiological study (EPS). Basic measurements were performed, and APERP was found at 280 ms cycle atrial pacing. RF energy was delivered using a 4 mm tip nonirrigated radiofrequency (RF) ablation catheter where the best ventriculoatrial (VA) signals were received and the AP was abolished within few seconds.
Discussion and Conclusions
Although, WPW cases are usually asymptomatic or related to SVT, the risk of SCD should not be ignored. Thus, all patients with WPW deserve an EPS for assessing the AP conduction properties. Due to the increased risk of SCD in patients with WS compared to general population, in the presence of concomitant WPW, these patients should be evaluated with EPS even if they do not have symptoms.
{"title":"A case of Williams syndrome with Wolff–Parkinson–White syndrome","authors":"Cem Karadeniz, Kaan Yıldız, Sedef Öksüz, Rüveyda Nur Keçici, Özgür Çoğulu","doi":"10.1002/bdr2.2385","DOIUrl":"10.1002/bdr2.2385","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Williams syndrome (WS) cases have been reported to have with 25–100 times greater increased risk of sudden cardiac death (SCD). SCD has been reported in cases without any evidence of structural cardiovascular anomalies. Wolff–Parkinson–White (WPW) syndrome is characterized by short PR interval and delta wave. Ventricular preexcitations can develop paroxysmal reentrant tachycardia through Kent bundle or less frequent atrial fibrillation and in some cases with accessory pathway effective refractory period (APERP) under 250 ms considered as risky and may lead to SCD. WS associated with WPW has not been reported before.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>An 11-year-old male who had been followed up with WS was referred to pediatric cardiology outpatient clinic with the complaint of palpitation. Electrocardiographic examination showed short PR interval and delta wave in the ECG consistent with WPW. He underwent electrophysiological study (EPS). Basic measurements were performed, and APERP was found at 280 ms cycle atrial pacing. RF energy was delivered using a 4 mm tip nonirrigated radiofrequency (RF) ablation catheter where the best ventriculoatrial (VA) signals were received and the AP was abolished within few seconds.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and Conclusions</h3>\u0000 \u0000 <p>Although, WPW cases are usually asymptomatic or related to SVT, the risk of SCD should not be ignored. Thus, all patients with WPW deserve an EPS for assessing the AP conduction properties. Due to the increased risk of SCD in patients with WS compared to general population, in the presence of concomitant WPW, these patients should be evaluated with EPS even if they do not have symptoms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141632659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Omkar Patel, S. Shahrukh Hashmi, Brett Chiquet, Jacqueline T. Hecht
Background
Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal abnormalities/complications. There are few natural history studies delineating the medical problems in PSACH leaving a gap in many areas, especially oral health. Our study aimed to obtain information pertaining to oral health and other health-related problems (pregnancy and childbirth, skeletal health, joint pain) in patients with PSACH.
Methods
To ascertain this information, an online Qualtrics survey was distributed to members of Little People of America, a support group, and through a PSACH online chatroom.
Results
Ninety-nine of 115 surveys were completed and included in the descriptive and multivariable analyses. PSACH individuals regularly sought dental care, but flossing was challenging because of short fingers. Untreated carries (5%), bleeding gums (16%) malocclusion (37%), obstructive sleep apnea (9%), and TMJ disorder (3%) occurred less frequently compared to the general population. Delivery was by Caesarean section in 100% of female respondents who delivered a baby. Bowlegs (74%), scoliosis (43%) and osteoarthritis (36%) were the most common skeletal complications. Joint pain was reported by 85% of respondents.
Conclusions
This study provides novel insights into oral health, pregnancy and childbirth while confirming previously identified skeletal complications in PSACH. Our findings suggest that oral healthcare in PSACH presents unique challenges.
{"title":"Natural history study of Pseudoachondroplasia: A focus on oral health","authors":"Omkar Patel, S. Shahrukh Hashmi, Brett Chiquet, Jacqueline T. Hecht","doi":"10.1002/bdr2.2378","DOIUrl":"10.1002/bdr2.2378","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal abnormalities/complications. There are few natural history studies delineating the medical problems in PSACH leaving a gap in many areas, especially oral health. Our study aimed to obtain information pertaining to oral health and other health-related problems (pregnancy and childbirth, skeletal health, joint pain) in patients with PSACH.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To ascertain this information, an online Qualtrics survey was distributed to members of Little People of America, a support group, and through a PSACH online chatroom.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-nine of 115 surveys were completed and included in the descriptive and multivariable analyses. PSACH individuals regularly sought dental care, but flossing was challenging because of short fingers. Untreated carries (5%), bleeding gums (16%) malocclusion (37%), obstructive sleep apnea (9%), and TMJ disorder (3%) occurred less frequently compared to the general population. Delivery was by Caesarean section in 100% of female respondents who delivered a baby. Bowlegs (74%), scoliosis (43%) and osteoarthritis (36%) were the most common skeletal complications. Joint pain was reported by 85% of respondents.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study provides novel insights into oral health, pregnancy and childbirth while confirming previously identified skeletal complications in PSACH. Our findings suggest that oral healthcare in PSACH presents unique challenges.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141625958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohamed A. Baky Fahmy, Ayman Altramsy, Mohammed Abdel-Latif M. Ayad
Background
The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies.
Methodology
Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented.
Results
PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs.
Conclusion
PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.
{"title":"New classification of the penoscrotal positional anomalies","authors":"Mohamed A. Baky Fahmy, Ayman Altramsy, Mohammed Abdel-Latif M. Ayad","doi":"10.1002/bdr2.2376","DOIUrl":"10.1002/bdr2.2376","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methodology</h3>\u0000 \u0000 <p>Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141598400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elizabeth E. Blue, Kristin J. Moore, Kari E. North, Tania A. Desrosiers, Suzan L. Carmichael, Janson J. White, Jessica X. Chong, Michael J. Bamshad, Mary M. Jenkins, Lynn M. Almli, Lawrence C. Brody, Sharon F. Freedman, Jennita Reefhuis, Paul A. Romitti, Gary M. Shaw, Martha Werler, Denise M. Kay, Marilyn L. Browne, Marcia L. Feldkamp, Richard H. Finnell, Wendy N. Nembhard, Faith Pangilinan, Andrew F. Olshan, the National Institutes of Health Intramural Sequencing Center, the University of Washington Center for Mendelian Genomics, the National Birth Defects Prevention Study
Background
Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.
Methods
We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997–2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI.
Results
Among candidate variants, CYP1B1 was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., CRYBB2, RXRA, GLI2).
Conclusion
Variation in the genes identified in this population-based study may help to further explain the genetics of PCG.
{"title":"Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study","authors":"Elizabeth E. Blue, Kristin J. Moore, Kari E. North, Tania A. Desrosiers, Suzan L. Carmichael, Janson J. White, Jessica X. Chong, Michael J. Bamshad, Mary M. Jenkins, Lynn M. Almli, Lawrence C. Brody, Sharon F. Freedman, Jennita Reefhuis, Paul A. Romitti, Gary M. Shaw, Martha Werler, Denise M. Kay, Marilyn L. Browne, Marcia L. Feldkamp, Richard H. Finnell, Wendy N. Nembhard, Faith Pangilinan, Andrew F. Olshan, the National Institutes of Health Intramural Sequencing Center, the University of Washington Center for Mendelian Genomics, the National Birth Defects Prevention Study","doi":"10.1002/bdr2.2384","DOIUrl":"10.1002/bdr2.2384","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, <i>CYP1B1</i>, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997–2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among candidate variants, <i>CYP1B1</i> was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., <i>CRYBB2</i>, <i>RXRA</i>, <i>GLI2</i>).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Variation in the genes identified in this population-based study may help to further explain the genetics of PCG.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141578957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Laura Avagliano, Silvia Castiglioni, Antonella Lettieri, Chiara Parodi, Elisabetta Di Fede, Esi Taci, Paolo Grazioli, Elisa Adele Colombo, Cristina Gervasini, Valentina Massa
Background
Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.
Methods
Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.
Results/Conclusion
To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.
{"title":"Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management","authors":"Laura Avagliano, Silvia Castiglioni, Antonella Lettieri, Chiara Parodi, Elisabetta Di Fede, Esi Taci, Paolo Grazioli, Elisa Adele Colombo, Cristina Gervasini, Valentina Massa","doi":"10.1002/bdr2.2383","DOIUrl":"10.1002/bdr2.2383","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results/Conclusion</h3>\u0000 \u0000 <p>To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emmanuelle Pannier, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié-Bitach
Background
Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin–Chaudry–Moss syndrome and Fontaine–Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations.
Cases
All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal SLC25A24 mosaicism was detected in one case.
Conclusions
We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array-based comparative genomic hybridization (CGH).
{"title":"Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism","authors":"Emmanuelle Pannier, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié-Bitach","doi":"10.1002/bdr2.2380","DOIUrl":"10.1002/bdr2.2380","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin–Chaudry–Moss syndrome and Fontaine–Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Cases</h3>\u0000 \u0000 <p>All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal <i>SLC25A24</i> mosaicism was detected in one case.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array-based comparative genomic hybridization (CGH).</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2380","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141558033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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