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Nasolabial fold discontinuity during speech as a possible extended cleft phenotype

Schmidt, KL and Neiswanger, K and Cohn, E and DeSensi, R and Brandon, C and Bardi, K and Marazita, ML (2013) Nasolabial fold discontinuity during speech as a possible extended cleft phenotype. Cleft Palate-Craniofacial Journal, 50 (2). 201 - 206. ISSN 1055-6656

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Objective: This exploratory research sought to extend the cleft phenotype by identifying movement-related soft tissue appearance changes in the midfacial region in individuals with cleft lip/palate or those with genetic susceptibility to cleft lip/palate (unaffected relatives). The cleft phenotype (clinically identified orofacial cleft or subclinical orbicularis oris defect) was hypothesized to be associated with movement related appearance changes in the midfacial region, e.g., with furrowing and dimpling during speech. Design: Changes in the appearance of skin in the midfacial region, including a newly identified phenotypic feature, nasolabial fold (NLF) discontinuity, were described and compared across groups. Participants: Individuals with cleft lip (n = 42), unaffected relatives of persons with a cleft (n = 57) and healthy controls (n = 41) were compared. Results: Frequencies of NLF discontinuity differed across cleft, relative, and control groups. NLF discontinuities were observed more frequently in individuals with a cleft phenotype (overt cleft or previously identified orbicularis oris muscle defect) than in those with no underlying muscular defect (Fisher exact test, P = .014). Conclusion: Results suggest that the appearance of facial soft tissue during movement of the midface is moderated at least in part by underlying cleft risk factors, indicating certain facial movements as candidate physical markers for extension of the cleft phenotype. © Copyright 2013 American Cleft Palate-Craniofacial Association.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Schmidt, KLkschmidt@pitt.eduKSCHMIDT
Neiswanger, Kknacct@pitt.eduKNACCT
Cohn, Eecohn@pitt.eduECOHN
DeSensi, Rshue@pitt.eduSHUE
Brandon, C
Bardi, K
Marazita, MLmarazita@pitt.eduMARAZITA
Date: 1 March 2013
Date Type: Publication
Journal or Publication Title: Cleft Palate-Craniofacial Journal
Volume: 50
Number: 2
Page Range: 201 - 206
DOI or Unique Handle: 10.1597/11-103
Schools and Programs: School of Health and Rehabilitation Sciences > Communication Science and Disorders
Refereed: Yes
ISSN: 1055-6656
PubMed ID: 22273627
Date Deposited: 20 Sep 2012 20:57
Last Modified: 03 Feb 2021 17:13


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