Ophthalmic changes in cleft lip and palate

Nasser, Luciano Sólia; Martelli, Daniella Reis Barbosa; Swerts, Mário Sérgio Oliveira; Popoff, Daniela Araújo Veloso; Barros, Letízia Monteiro de; Júnior, Hercílio Martelli

doi:10.5935/0034-7280.20160021

Cited by 5 publications

(13 citation statements)

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“…The absence of these genes leads to anophthalmia. 4 In the present study, the genetic changes found were not specifically related to the anophthalmia or microphthalmia phenotype.…”

Section: Discussioncontrasting

confidence: 51%

“…Nàsser et al (2016), in a systematic review on ophthalmological changes in patients with cleft lip and cleft palate, concluded that there is no consensus about the most frequent ocular changes in patients with nonsyndromic cleft lip and palate, and the same is true of articles that relate these changes with cleft lip and palate as embryological concepts. 4 As already reviewed, the most important and severe malformations occur between the 4th and 8th weeks of the embryological period, while clefts occur between the 4th or 6th and 8th weeks. It would then be this overlap period that would lead to a greater association of these malformations affected by similar external and genetic factors.…”

Section: Discussionmentioning

confidence: 96%

“…In other words, there is an overlap period between the 6th and 8th week in which ocular and oral changes occur. 4 For this reason, syndromes that arise from inadequate development of the neural crest (e.g., Goldenhar syndrome) usually involve the eye as well as facial, dental and cranial abnormalities. 5 Exceptionally, these malformations may manifest in association with bilateral cleft lip and palate and rare facial clefts.…”

Section: Introductionmentioning

confidence: 99%

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Clinical characterization of anophthalmic and microphthalmic cavities in individuals with craniofacial anomalies

Paula¹

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“…The absence of these genes leads to anophthalmia. 4 In the present study, the genetic changes found were not specifically related to the anophthalmia or microphthalmia phenotype.…”

Section: Discussioncontrasting

confidence: 51%

Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

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Clinical characterization of anophthalmic and microphthalmic cavities in individuals with craniofacial anomalies

Paula¹

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“…[ 13 ] About 70% of CL/P and 50% of isolated cleft palate cases lack additional features and are categorized as “Nonsyndromic.”[ 14 ] It was found that the prevalence of NSCL/P varies with ancestry and most commonly affected ones were Asian/Amerindian descendants. [ 15 16 ] Hence, this particular craniofacial anomaly has been selected for the study.…”

Section: Discussionmentioning

confidence: 99%

Dermatoglyphic analysis in parents with cleft children: A comparative study

et al. 2018

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Background and Objective:There were studies in the literature which showed the altered dermatoglyphics in the cleft children. But it would be beneficial if probable expression can be proved in prior generations, so that genetic counseling and other preventive measures can be undertaken. The aim of the study is to determine variations in dermatoglyphics of prior generations which would serve as bench markers to predict the occurrence of cleft in off springs.Materials and Methods:A total of 400 parents aged between 25-45 years were selected and divided into two groups - Group A consisted of parents with cleft children and Group B comprised of parents with at least 2 healthy children who met the inclusion criteria. Dermatoglyphic prints were collected by ink method and evaluated for pattern types, total ridge count and palm prints were evaluated for a-b ridge count, atd angle and asymmetry.Results:Significant difference was observed between Group A and B with reference to pattern types; TRC and a-b ridge count and atd angle. Absence of t point was variably noticed in the mothers of affected children.Conclusion:Dermatoglyphics can be used as tool to study the developmental instability of cleft anomalies and provides data to assess the genetic etiology of clefting.

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“…It is also expressed in the murine brain [ 17 ]. A systematic review reported the significant presence of ocular abnormalities in patients with NSCL/P [ 18 ]. Further, GWAS studies [ 19 , 20 , 21 ] confirmed an association between polymorphisms of ABCA4 and the NSCL/P risk, where one study [ 19 ] showed genome-wide significances of 8.14 × 10 −8 and 5.01 × 10 −12 for the rs560426 polymorphism in combined European and Asian cases and another study [ 20 ] reported 1.06 × 10 −12 for the rs481931 polymorphism in Asian families.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis

Imani

Sadeghi

Tadakamadla

et al. 2021

Life

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Background: A number of genes are associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Studies have shown a significant association between polymorphisms of ATP-binding cassette, sub-family A, member 4 (ABCA4) with the risk of NSCL/P. The present meta-analysis assessed the association between ABCA4 polymorphisms (rs560426 and rs481931) and the NSCL/P risk by reviewing case-control studies. Methods: Four databases (Scopus; Cochrane Library; Web of Science; and PubMed) were searched for articles published up to June 2020. The Review Manager 5.3 software was used to calculate the crude odds ratio (OR) and 95% confidence interval (CI). Both subgroup analyses for ethnicity and source of controls and a meta-regression related to publication year were conducted. Results: Of 94 retrieved studies, 12 were analyzed in this meta-analysis (2859 NSCL/P patients and 3792 controls for ABCA4 rs560426 polymorphism and 1333 NSCL/P patients and 1884 controls for ABCA4 rs481931 polymorphism). Overall, there was no significant association between both polymorphisms and the risk of NSCL/P. However, subgroup analysis demonstrated that there was a higher risk of NSCL/P for specific models: the allelic model (OR = 1.13; p = 0.03), the homozygote model (OR = 1.53; p = 0.04), and the recessive model (OR = 1.30; p = 0.03) in the Asian ethnicity for the rs560426 polymorphism. Conclusion: The findings confirmed that the NSCL/P risk was significantly associated with the G allele and GG genotype of rs560426 polymorphism but not for rs481931 polymorphism. There were no associations between both polymorphisms (rs560426 and rs481931) and the NSCL/P risk in those of European descent and the mixed ethnicities.

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Ophthalmic changes in cleft lip and palate

Cited by 5 publications

References 0 publications

Clinical characterization of anophthalmic and microphthalmic cavities in individuals with craniofacial anomalies

Clinical characterization of anophthalmic and microphthalmic cavities in individuals with craniofacial anomalies

Dermatoglyphic analysis in parents with cleft children: A comparative study

Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis

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