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Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases

Weinberg, SM and Brandon, CA and McHenry, TH and Neiswanger, K and Deleyiannis, FWB and De Salamanca, JE and Castilla, EE and Czeizel, AE and Vieira, AR and Marazita, ML (2008) Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases. American Journal of Medical Genetics, Part A, 146 (13). 1670 - 1675. ISSN 1552-4825

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Emerging research suggests that subepithelial defects of the upper lip musculature are part of the phenotypic spectrum of cleft lip and/or palate (CL/P) and may represent an occult, subclinical manifestation of the anomaly. The present study investigates whether similar occult lip defects are present in individuals affected with isolated cleft palate (CP). To this end, upper lip ultrasounds of 33 CP cases (12 males, 21 females) were evaluated retrospectively for the presence of discontinuities (i.e., breaks) within the orbicularis oris muscle (OOM). In four CP cases (2 males, 2 females), distinct discontinuities of the OOM were identified. Of the remaining CP individuals, 23 demonstrated normal lip morphology on ultrasound (7 males, 16 females), while, in 6 cases (3 males, 3 females), a definitive evaluation was not possible. As CP and CL/P are traditionally thought to be etiologically distinct, these findings raise the possibility that some CP cases may be misclassified. Such diagnostic errors could have important implications for recurrence risk estimation and studies aimed at discovering etiology. © 2008 Wiley-Liss, Inc.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Weinberg, SM
Brandon, CA
McHenry, TH
Neiswanger, K
Deleyiannis, FWB
De Salamanca, JE
Castilla, EE
Czeizel, AE
Vieira, ARarv11@pitt.eduARV11
Marazita, MLmarazita@pitt.eduMARAZITA
Date: 1 July 2008
Date Type: Publication
Journal or Publication Title: American Journal of Medical Genetics, Part A
Volume: 146
Number: 13
Page Range: 1670 - 1675
DOI or Unique Handle: 10.1002/ajmg.a.32291
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1552-4825
MeSH Headings: Abnormalities, Multiple--genetics; Abnormalities, Multiple--ultrasonography; Cleft Lip--complications; Cleft Lip--genetics; Cleft Lip--ultrasonography; Cleft Palate--complications; Cleft Palate--genetics; Cleft Palate--ultrasonography; Facial Muscles--abnormalities; Facial Muscles--ultrasonography; Female; Humans; Male; Pedigree; Retrospective Studies; Video Recording
PubMed ID: 18536047
Date Deposited: 20 Sep 2012 21:18
Last Modified: 20 Feb 2020 13:55


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