We have located links that may give you full text access.
Journal Article
Research Support, N.I.H., Extramural
Review
Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P.
Orthodontics & Craniofacial Research 2007 May
OBJECTIVES: Non-syndromic cleft lip with or without cleft palate (CL/P) is a common, complex birth defect with a wide phenotypic spectrum. This review summarizes the evidence that subepithelial (occult) defects of the superior orbicularis oris (OO) muscle represent the mildest form of the lip portion of CL/P.
EXPERIMENTAL DESIGN: The rate of OO defects was assessed via ultrasound in non-CL/P relatives of individuals with CL/P and compared with controls. Descriptive histology of OO muscles from cadavers was carried out. BMP4 was sequenced in non-CL/P individuals with OO defects vs. controls.
RESULTS: 1) Non-CL/P relatives of individuals with overt CL/P have a significantly increased frequency of OO defects compared with controls with no family history of CL/P; 2) Preliminary histological studies of cadaver OO muscles show a pattern of disorganized muscle fibers in an individual with OO discontinuities as seen on ultrasound compared with another individual with no OO defect. That is, the defects seen on ultrasound appear to have an anatomical basis; 3) Sequencing BMP4 found a significant increase in potentially damaging mutations in individuals with OO defects vs. controls.
CONCLUSIONS: Taken together, these data provide significant support for the hypothesis that subepithelial OO muscle defects are a mild manifestation of the lip portion of the CL/P phenotype. Given that subepithelial OO muscle defects are relatively straightforward to identify via ultrasound, such defects show great promise for providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, inclusion of OO defects in the CL/P phenotypic spectrum should improve the power of genetic studies.
EXPERIMENTAL DESIGN: The rate of OO defects was assessed via ultrasound in non-CL/P relatives of individuals with CL/P and compared with controls. Descriptive histology of OO muscles from cadavers was carried out. BMP4 was sequenced in non-CL/P individuals with OO defects vs. controls.
RESULTS: 1) Non-CL/P relatives of individuals with overt CL/P have a significantly increased frequency of OO defects compared with controls with no family history of CL/P; 2) Preliminary histological studies of cadaver OO muscles show a pattern of disorganized muscle fibers in an individual with OO discontinuities as seen on ultrasound compared with another individual with no OO defect. That is, the defects seen on ultrasound appear to have an anatomical basis; 3) Sequencing BMP4 found a significant increase in potentially damaging mutations in individuals with OO defects vs. controls.
CONCLUSIONS: Taken together, these data provide significant support for the hypothesis that subepithelial OO muscle defects are a mild manifestation of the lip portion of the CL/P phenotype. Given that subepithelial OO muscle defects are relatively straightforward to identify via ultrasound, such defects show great promise for providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, inclusion of OO defects in the CL/P phenotypic spectrum should improve the power of genetic studies.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app