Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients

Martin, Rick A.; Hunter, Valerie; Neufeld-Kaiser, Whitney; Flodman, Pamela; Spence, M. Anne; Furnas, David W.; Martin, Kimberly

doi:10.1002/(sici)1096-8628(20000117)90:2<155::aid-ajmg13>3.0.co;2-v

Cited by 57 publications

(49 citation statements)

References 10 publications

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“…In addition to the IRF6 and PVRL1 examples, efforts are underway to determine whether variants in other cleft syndrome genes are associated with nonsyndromic clefting. Mutations and deletions in FGFR1 account for 10% of patients with Kallmann syndrome, which is an autosomal dominant disorder characterized by orofacial clefting, dental anomalies, hypogonadism, and anosmia [84]. Suggestive association and linkage to CL/P has been found for markers within the FGFR1 gene, again underscoring the importance of studying syndromic forms of clefting [85].…”

Section: Syndromic Orofacial Clefts Provide Important Cluesmentioning

confidence: 99%

Progress toward discerning the genetics of cleft lip

Lidral

Moreno

2005

Current Opinion in Pediatrics

111

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Purpose of review-Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate.Recent findings-The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described.Summary-With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene-environment and gene-gene interactions to provide knowledge for risk counseling and the development of preventive therapies.

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Section: Syndromic Orofacial Clefts Provide Important Cluesmentioning

confidence: 99%

Progress toward discerning the genetics of cleft lip

Lidral

Moreno

2005

Current Opinion in Pediatrics

111

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“…Muscle dimension determination by ultrasonography has been used as a parameter of muscle form and function in many studies [9][10][11]14,15 , and, interestingly, facial features are usually studied in profile. In this study, the relationship between hard and soft tissue cephalometric variables was investigated and correlated with the orbicular oris thickness at rest and in the contracted state in subjects with Class I and Class II malocclusion.…”

Section: Discussionmentioning

confidence: 99%

“…However, imaging with ultrasound (US) enables muscle thickness determination, even during muscle contraction 7 in live subjects. US gives uncomplicated and reproducible access to jaw muscle function parameters and their interaction with the craniomandibular system 8 ; it is a suitable method for children, with effectiveness and innocuity assured [9][10][11] . Thus, the principal aims of this study were to determine ultrasonographic thickness of the lower and upper fascicles of the orbicularis oris muscle in pre-orthodontic children with mixed dentition having skeletal Class I and Class II malocclusion and subdivisions.…”

Section: Introductionmentioning

confidence: 99%

Associations between orbicularis oris thickness and skeletal and dental variables in mixed dentition

Barbosa

Gavião

Pupo

et al. 2012

Rev. odontol. UNESP

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AIM: To evaluate the association between orbicularis oris thickness and skeletal and dental variables in children with mixed dentition. MATERIAL AND METHOD: A convenience sample of 22 children, aged 7 to 12 years, with skeletal Class I and Class II malocclusion and subdivisions were selected. The upper and lower fascicles of the orbicularis oris thicknesses were measured using ultrasound (US) by one calibrated examiner, at rest and in the contracted state. Cephalometric radiograph measurements of the hard and soft tissues were calculated by one trained examiner. The results were analyzed by the Pearson and Spearman coefficients. RESULT: The upper and lower fascicles of the orbicularis oris in the contracted state showed a negative correlation with the distance between Ricketts' E-line and the labrale superius (E ┴ Ls). There were positive correlations between the lower face height and the distance between the AB plane and the labrale superius (AB-Ls) and between the ANB angle and the distance between E ┴ Ls and Ricketts' E-line and the labrale inferius (E ┴ Li). The lower-incisor distance from the N-Pg plane correlated positively with the distance between AB-Ls and the distance between the E ┴ Ls and E ┴ Li. Overbite and interincisal angle were negatively correlated with the distance between the pogonion and the soft tissue pogonion and the distance between E ┴ Li, respectively. CONCLUSION: Skeletal and dental variables were associated with upper and lower lip position and pogonion thickness, while the upper and lower fascicles of the orbicularis oris thicknesses in the contracted state were associated only with upper lip retrusion.

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“…The malformation cleft lip with or without cleft palate (CL/P) has been extensively studied without much headway having been made in identifying susceptibility genes. An interesting finding, therefore, among first-degree relatives of patients with CL/P, is that some have occult abnormalities of the upper lip musculature that can be identified by ultrasound (Martin et al, 1993(Martin et al, , 2000. The use of this discontinuity of the orbicularis oris muscle, which has been called a subepithelial cleft, may be extremely valuable in future mapping studies.…”

Section: Partition Phenotype or Dataset By Cause And Associated Pathomentioning

confidence: 99%

Defining Disease Phenotypes

Aylsworth

2005

Genetic Analysis of Complex Diseases

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Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients

Cited by 57 publications

References 10 publications

Progress toward discerning the genetics of cleft lip

Progress toward discerning the genetics of cleft lip

Associations between orbicularis oris thickness and skeletal and dental variables in mixed dentition

Defining Disease Phenotypes

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