Rethinking isolated cleft palate

Evidence of occult lip defects in a subset of cases

Seth M. Weinberg, Carla A. Brandon, Toby H. McHenry, Katherine Neiswanger, Frederic W B Deleyiannis, Javier E. De Salamanca, Eduardo E. Castilla, E. Czeizel, Alexandre R. Vieira, Mary L. Marazita

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1670-1675
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number13
DOIs
Publication statusPublished - Jul 1 2008

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Cleft Palate
Lip
Cleft Lip
Muscles
Palate
Diagnostic Errors
Recurrence
Research

Keywords

  • Isolated cleft palate
  • Orbicularis oris muscle
  • Phenotype
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Weinberg, S. M., Brandon, C. A., McHenry, T. H., Neiswanger, K., Deleyiannis, F. W. B., De Salamanca, J. E., ... Marazita, M. L. (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. https://doi.org/10.1002/ajmg.a.32291

Rethinking isolated cleft palate : Evidence of occult lip defects in a subset of cases. / Weinberg, Seth M.; Brandon, Carla A.; McHenry, Toby H.; Neiswanger, Katherine; Deleyiannis, Frederic W B; De Salamanca, Javier E.; Castilla, Eduardo E.; Czeizel, E.; Vieira, Alexandre R.; Marazita, Mary L.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 13, 01.07.2008, p. 1670-1675.

Research output: Contribution to journalArticle

Weinberg, SM, Brandon, CA, McHenry, TH, Neiswanger, K, Deleyiannis, FWB, De Salamanca, JE, Castilla, EE, Czeizel, E, Vieira, AR & Marazita, ML 2008, 'Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases', American Journal of Medical Genetics, Part A, vol. 146, no. 13, pp. 1670-1675. https://doi.org/10.1002/ajmg.a.32291
Weinberg SM, Brandon CA, McHenry TH, Neiswanger K, Deleyiannis FWB, De Salamanca JE et al. Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases. American Journal of Medical Genetics, Part A. 2008 Jul 1;146(13):1670-1675. https://doi.org/10.1002/ajmg.a.32291
Weinberg, Seth M. ; Brandon, Carla A. ; McHenry, Toby H. ; Neiswanger, Katherine ; Deleyiannis, Frederic W B ; De Salamanca, Javier E. ; Castilla, Eduardo E. ; Czeizel, E. ; Vieira, Alexandre R. ; Marazita, Mary L. / Rethinking isolated cleft palate : Evidence of occult lip defects in a subset of cases. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 13. pp. 1670-1675.
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