Structural Birth Defects Associated with Oral Clefts in Hawaii, 1986 to 2001

2006 ◽  
Vol 43 (3) ◽  
pp. 356-362 ◽  
Author(s):  
Mathias B. Forrester ◽  
Ruth D. Merz
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Single Ventricle ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Oral Clefts ◽  
Oral Cleft

Objective To identify structural birth defects that occur in association with oral clefts. Methods Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. Results Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. Conclusions Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

Epidemiology of cleft lip with or without cleft palate in Thais

2017 ◽  
Vol 10 (4) ◽  
pp. 335-338 ◽  
Author(s):  
Rungnapa Ittiwut ◽  
Pichit Siriwan ◽  
Kanya Suphapeetiporn ◽  
Vorasuk Shotelersuk
Keyword(s):  
Family History ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Epidemiological Studies ◽  
Retrospective Case ◽  
Oral Clefts ◽  
Oral Cleft ◽  
History Of ◽  
Maternal Consumption ◽  
Genetic And Environmental Factors

Abstract Background Oral clefts, including cleft lip (CL), CL with cleft palate (CL/CP), and cleft palate only (CPO), are among the most common birth defects, and if left untreated can cause significant morbidity. Causes are complex and involve both genetic and environmental factors. Several studies have demonstrated the highest prevalence of oral clefts being in Asian, white, and African populations. However, there have been very few epidemiological studies of oral clefts in Thais. Objectives To describe the epidemiology and factors associated with oral clefts in Thais. Methods This retrospective case-control observational study included individuals from numerous regions in Thailand. We reviewed data regarding 784 patients with an oral cleft collected in questionnaires as part of the Thai nationwide Smart Smile and Speech Project from 2006 to 2014. Data regarding patients with oral clefts were analyzed, and compared with data regarding 187 unaffected controls. Results Of 784 cases, CL/CP accounted for 59.8%, CPO 21.9%, and CL 18.3%. A family history of oral clefts was detected in all 3 types (P < 0.001). Maternal use of any drugs or herbal medicine not prescribed by physicians during pregnancy in cases of CPO (P = 0.049) and maternal consumption of alcohol during pregnancy in cases of CL/CP (P = 0.047) were significantly higher than that by mothers of controls. Conclusions CL/CP is the most common type of oral cleft. A family history of oral clefts, and maternal consumption of alcohol or nonprescribed drugs are positively associated with oral clefts in Thais.

scholarly journals Oral Clefts and Academic Performance in Adolescence: The Impact of Anesthesia-Related Neurotoxicity, Timing of Surgery, and Type of Oral Clefts

2017 ◽  
Vol 54 (4) ◽  
pp. 371-380 ◽  
Author(s):  
Nicola G. Clausen ◽  
Dorthe A. Pedersen ◽  
Jacob K. Pedersen ◽  
Susanne E. Møller ◽  
Dorthe Grosen ◽  
...  
Keyword(s):  
Academic Performance ◽  
Cleft Palate ◽  
Birth Cohort ◽  
Cleft Lip ◽  
Ninth Grade ◽  
Mean Difference ◽  
Control Group ◽  
Oral Clefts ◽  
Oral Cleft ◽  
The Impact

Objective Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group to investigate whether outcome depends on timing and number of operations during childhood and/or type of oral cleft. Design Nationwide register-based follow-up study. Setting Danish birth cohort 1986 to 1990. Participants Five hundred fifty-eight children with isolated CL (n = 171), CLP (n =222), or CP (n = 195), of which 509 children had been exposed to anesthesia and one or more cleft operation(s), and a 5% sample of the birth cohort (n = 14,677). Main Outcome Measure(s) Test score in the Danish standardized ninth-grade exam and proportion of nonattainment, defined as “results for ninth-grade exam unavailable.” Data adjusted for sex, birth weight, parental age, and parental level of education. Results Compared to controls, children with CL achieved higher scores (mean difference 0.12, 95% CI –0.05; 0.29) and children with CLP presented with lower scores (mean difference –0.06, 95% CI –0.21; 0.09), albeit both statistically insignificant. Children with CP achieved significantly lower scores, mean difference –0.20 (95% CI –0.38; –0.03). Odds ratios for nonattainment at final exam were: CL 0.79 (95% CI 0.46; 1.35), CLP 1.07 (95% CI 0.71; 1.61), CP 2.59 (95% CI 1.78; 3.76). Conclusions Oral cleft type rather than number and timing of anesthesia and operations associate to poorer academic performance. Although a potential neurotoxic effect due to anesthetic agents is not reflected in the data, it cannot be completely excluded.

scholarly journals FOXE1 mutations in Thai patients with oral clefts

2013 ◽  
Vol 95 (5) ◽  
pp. 133-137 ◽  
Author(s):  
CHALURMPON SRICHOMTHONG ◽  
RUNGNAPA ITTIWUT ◽  
PICHIT SIRIWAN ◽  
KANYA SUPHAPEETIPORN ◽  
VORASUK SHOTELERSUK
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Genetic Factors ◽  
Heterozygous State ◽  
Coding Region ◽  
Thai Population ◽  
Oral Clefts ◽  
Pcr Rflp ◽  
Genotype A

SummaryNon-syndromic oral clefts comprising cleft lip with and without cleft palate (CL/P) and cleft palate only (CPO) are common birth defects worldwide. Their aetiology involves both environmental and genetic factors. FOXE1 has previously been reported to be associated with oral clefts in some populations. Here, we investigate whether mutations in FOXE1 play a part in the formation of oral cleft in a Thai population. We first performed PCR–RFLP to genotype a previously reported associated polymorphism, c.-1204C > G (rs111846096), in our cohort. No association was found. In addition, two unrelated unaffected controls were found to be homozygous GG, indicating that homozygous GG at this c.-1204 position was not sufficient for the development of oral clefts. We then sequenced the entire coding region of FOXE1 in 458 unrelated individuals (146 CPOs, 108 CL/Ps and 204 Thai controls). Five different non-synonymous variants, c.274G > T (p.D92Y), c.569C > G (p.P190R), c.569C > T (p.P190L), c.664C > T (p.R222C) and c.1090G > A (p.G364S), were identified in CPOs and one, c.572C > G (p.P191R), in CL/P. All these six variants were in heterozygous state, each identified in one patient, and absent in 204 controls. Except the p.P190R, which was previously reported, the other five variants were novel. Our study identifies probable susceptibility variants of FOXE1 for oral clefts in the Thai population.

Maternal Cigarette Smoking and Oral Clefts: A Meta-analysis

1997 ◽  
Vol 34 (3) ◽  
pp. 206-210 ◽  
Author(s):  
Diego F. Wyszynski ◽  
David L. Duffy ◽  
Terri H. Beaty
Keyword(s):  
Cigarette Smoking ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Meta Analysis ◽  
First Trimester ◽  
Case Control Studies ◽  
Oral Clefts ◽  
Oral Cleft ◽  
Maternal Cigarette Smoking ◽  
Increased Risk

Objective A meta-analysis was performed to estimate the association between maternal cigarette smoking and the risk of having a child with a nonsyndromic oral cleft (NSOC). Design Studies published from 1966 through 1996 were retrieved using MEDLINE, Current Contents, bibliographies, and other sources. MEDLINE and Current Contents search terms included “oral clefts,” “cigarette smoking,” “birth defects,” and “congenital malformations.” Cohort and case-control studies that enrolled oral cleft patients [cleft lip with or without cleft palate (CL/P), cleft palate (CP), or both] and controls, and presented information on maternal cigarette exposure during pregnancy were included in the analysis. Descriptive and outcome data from each study were independently abstracted by two authors. Results The overall odds ratio of the 11 studies satisfying criteria was 1.29 [95% confidence interval (CI), 1.18 to 1.42] for CL/P and 1.32 (95% CI: 1.10 to 1.62) for CP, Indicating a small increased risk of having a child with either a CL/P or a CP for mothers who smoke during the first trimester of the pregnancy. Conclusions These analyses suggest a small but statistically significant association between maternal cigarette smoking during the first trimester of gestation and increased risk of having a child with a CL/P or CP.

Birth Prevalence of Oral Clefting in Northern Iran

2007 ◽  
Vol 44 (4) ◽  
pp. 378-380 ◽  
Author(s):  
Mohammad Jafar Golalipour ◽  
Arezo Mirfazeli ◽  
Naser Behnampour
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Birth Date ◽  
Northern Iran ◽  
Oral Clefts ◽  
Oral Cleft ◽  
Birth Prevalence ◽  
Parental Consanguinity ◽  
Live Births ◽  
Isolated Cleft Palate

Objective: To explore the prevalence of oral clefting in northern Iran. Setting: In the Dezyani hospital 37,951 live births from 1998 through 2003 were screened for oral clefts. Clinical and demographic factors of diagnosed cases, including birth date, ethnicity, type of oral cleft, parental consanguinity, and coexisting anomalies, were recorded for analysis. Results: The overall prevalence of oral clefting was 0.97 per 1000 live births. The prevalence of cleft lip with or without cleft palate and isolated cleft palate was 0.60 and 0.37 per 1000, respectively. The prevalence of oral clefting was 1.08 per 1000 male births and 0.86 per 1000 female births. With respect to parental ethnicity, the prevalence of oral clefting was 0.86, 0.88, and 1.47 per 1000 in Fars, Turkman, and Sistani, respectively. Conclusions: The prevalence of oral cleft among live births in the Dezyani hospital is similar to that reported in the previous studies for Iran and whites.

An Epidemiologic Study of Orofacial Clefts with Other Birth Defects in Victoria, Australia

2006 ◽  
Vol 43 (5) ◽  
pp. 571-576 ◽  
Author(s):  
Linda D. Vallino-Napoli ◽  
Merilyn M. Riley ◽  
Jane L. Halliday
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Epidemiologic Study ◽  
Prevalence Ratio ◽  
Chromosomal Anomalies ◽  
Oral Clefts ◽  
System Defect ◽  
Epidemiological Characteristics

Objective: To describe the epidemiological characteristics of oral clefts occurring with other birth defects in Victoria, Australia. Methods: Information on infants and fetuses reported to the Victorian Birth Defects Register from 1983 to 2000 was collected. Birth defects were classified as Pierre Robin Sequence, chromosomal anomaly, nonchromosomal syndrome, single-system defect, or multiple-system defect. Pregnancy outcome and associations with selected infant and maternal features was examined. Results: One third of the 2022 oral clefts recorded had other birth defects. There were more overall cleft cases involving multiple systems and chromosomal anomalies than any other birth defect group. The prevalence ratio of cleft lip with or without cleft palate (CL/P) was highest among multiple-system defects and chromosomal anomalies. Perinatal mortality was high, with termination of pregnancy highest in CL/P and chromosomal anomalies and multiple-system defects. There was a nonsignificant excess of clefts among multiple births. Women ≥40 years old had a tendency toward having a child with a cleft palate and another birth defect. There was an increased likelihood that women born in the U.K. would have a baby with CL/P and another birth defect. Conclusions: This is among the first reports in Victoria, Australia, describing oral clefts and other birth defects and associations between infant and maternal factors. Although some findings confirmed other population-based studies, some continued to be at variance. Nonetheless, the data derived support examination of babies diagnosed with clefts for associated comorbidities.

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

2020 ◽  
Vol 57 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Yah-Huei Wu-Chou ◽  
Kuo-Ting Philip Chen ◽  
Yi-Chieh Lu ◽  
Yin-Ting Lin ◽  
Hsien-Fang Chang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Strong Association ◽  
Nucleotide Polymorphisms ◽  
Test Analysis ◽  
Oral Clefts ◽  
The Family ◽  
Abca4 Gene ◽  
Family Based ◽  
New Evidence

Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO ( P = .03498; Permuted P = .05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

Testing for Interaction between Maternal Smoking and TGFA Genotype among Oral Cleft Cases Born in Maryland 1992–1996

1997 ◽  
Vol 34 (5) ◽  
pp. 447-454 ◽  
Author(s):  
Terri H. Beaty ◽  
Nancy E. Maestri ◽  
Jacqueline B. Hetmanski ◽  
Diego F. Wyszynski ◽  
Craig A. Vanderkolk ◽  
...  
Keyword(s):  
Birth Defects ◽  
Maternal Smoking ◽  
Case Control Study ◽  
Case Control ◽  
Comprehensive Treatment ◽  
Environment Interaction ◽  
Oral Clefts ◽  
Oral Cleft ◽  
Increased Risk ◽  
Control Study

Objective: Infants born in Maryland between June 1992 and June 1996 were used in a case-control study of nonsyndromic oral clefts to test for effects of maternal smoking and a polymorphic genetic marker at the transforming growth factor alpha (TGFA) locus, both of which have been reported to be risk factors for these common birth defects. Design and Setting: Cases were infants with an oral cleft ascertained through three comprehensive treatment centers, with additional ascertainment through a registry of birth defects maintained by the Maryland Health Department. Controls were healthy infants. Medical history information on infants and mothers were collected, along with DNA samples Patients, Participants: Among 286 cases contacted (72% ascertainment), there were 192 nonsyndromic isolated oral clefts (106 M; 86 F) available for this case-control study. Main Outcome Measures: The largest group of 149 Caucasian nonsyndromic cases and 86 controls was used to test for association with maternal smoking and genotype at the Taq1 polymorphism in TGFA. Results: While this modest sample had limited statistical power to detect gene-environment interaction, there was a significant marginal Increase In risk of having an oral cleft If the mother smoked (odds ratio = 1.75, 95%CI = 1.01 to 3.02). We could not demonstrate statistical interaction between maternal smoking and TGFA genotype in this study, however, and the observed increase in the C2 allele among cases was not statistically significant. Conclusions: We could not confirm either the reported association between oral clefts and TGFA genotype or its interaction with maternal smoking. However, these data do show an increased risk if the mother smoked during pregnancy, and this effect was greatest among infants with a bilateral cleft and no close family history of clefts.

Birth weight and gestational age of newborns with cleft lip with or without cleft palate and with isolated cleft palate

2004 ◽  
Vol 27 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Diego Wyszynski ◽  
Andrea Sarkozi ◽  
Peter Vargha ◽  
Andrew Czeizel
Keyword(s):  
Birth Weight ◽  
Cleft Palate ◽  
Gestational Age ◽  
Premature Birth ◽  
Cleft Lip ◽  
Very Low Birth Weight ◽  
Elevated Risk ◽  
Healthy Controls ◽  
Oral Clefts ◽  
Isolated Cleft Palate

The birth weight and gestational age of 1368 newborns with isolated cleft lip with or without cleft palate and 582 with isolated cleft palate were compared to those of matched healthy controls. The results indicate that fetuses with oral clefts are at elevated risk of having low and very low birth weight, but not of having a premature birth. Speculations on a relationship between these findings and the presence of oral clefts are presented.

scholarly journals Dexamethasone Suppresses Palatal Cell Proliferation through miR-130a-3p

2021 ◽  
Vol 22 (22) ◽  
pp. 12453
Author(s):  
Hiroki Yoshioka ◽  
Goo Jun ◽  
Akiko Suzuki ◽  
Junichi Iwata
Keyword(s):  
Cell Proliferation ◽  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Neural Crest Cell ◽  
Congenital Birth Defects ◽  
Cranial Neural Crest Cell ◽  
Primary Mouse ◽  
Mirna Sequencing ◽  
Crest Cell

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital birth defects. This study aims to identify novel pathogenic microRNAs associated with cleft palate (CP). Through data analyses of miRNA-sequencing for developing palatal shelves of C57BL/6J mice, we found that miR-449a-3p, miR-449a-5p, miR-449b, miR-449c-3p, and miR-449c-5p were significantly upregulated, and that miR-19a-3p, miR-130a-3p, miR-301a-3p, and miR-486b-5p were significantly downregulated, at embryonic day E14.5 compared to E13.5. Among them, overexpression of the miR-449 family (miR-449a-3p, miR-449a-5p, miR-449b, miR-449c-3p, and miR-449c-5p) and miR-486b-5p resulted in reduced cell proliferation in primary mouse embryonic palatal mesenchymal (MEPM) cells and mouse cranial neural crest cell line O9-1. On the other hand, inhibitors of miR-130a-3p and miR-301a-3p significantly reduced cell proliferation in MEPM and O9-1 cells. Notably, we found that treatment with dexamethasone, a glucocorticoid known to induce CP in mice, suppressed miR-130a-3p expression in both MEPM and O9-1 cells. Moreover, a miR-130a-3p mimic could ameliorate the cell proliferation defect induced by dexamethasone through normalization of Slc24a2 expression. Taken together, our results suggest that miR-130-3p plays a crucial role in dexamethasone-induced CP in mice.

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