Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases.
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. (c) 2008 Wiley-Liss, Inc.
Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15090, USA.
Seth M
SM
Weinberg
Carla A
CA
Brandon
Toby H
TH
McHenry
Katherine
K
Neiswanger
Frederic W B
FW
Deleyiannis
Javier E
JE
de Salamanca
Eduardo E
EE
Castilla
Andrew E
AE
Czeizel
Alexandre R
AR
Vieira
Mary L
ML
Marazita
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002971:Cleft Lip / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics; D002972:Cleft Palate / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics; D005152:Facial Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012189:Retrospective Studies; D014463:Ultrasonography; D014741:Video Recording