Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate

Katherine Neiswanger, Kevin W. Chirigos, Cherise M. Klotz, Margaret E. Cooper, Kathleen M. Bardi, Carla A. Brandon, Seth M. Weinberg, Alexandre R. Vieira, Rick A. Martin, E. Czeizel, Eduardo E. Castilla, Fernando A. Poletta, Mary L. Marazita

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, that is, individuals with CL/P, their relatives, and unrelated controls - from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S. sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% vs. 2.3%; P=0.003 and 0.001, respectively). Whorls weremore frequent in CL/P families from Argentina than in CL/P families fromthe U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data.

Original languageEnglish
Pages (from-to)2673-2679
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number12
DOIs
Publication statusPublished - Dec 2009

Fingerprint

Cleft Lip
Cleft Palate
Lip
Hungary
Argentina
Recurrence

Keywords

  • Cheiloscopy
  • Cleft lip
  • Cleft palate
  • Lip prints
  • Lip whorls

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Neiswanger, K., Chirigos, K. W., Klotz, C. M., Cooper, M. E., Bardi, K. M., Brandon, C. A., ... Marazita, M. L. (2009). Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate. American Journal of Medical Genetics, Part A, 149(12), 2673-2679. https://doi.org/10.1002/ajmg.a.33089

Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate. / Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 12, 12.2009, p. 2673-2679.

Research output: Contribution to journalArticle

Neiswanger, K, Chirigos, KW, Klotz, CM, Cooper, ME, Bardi, KM, Brandon, CA, Weinberg, SM, Vieira, AR, Martin, RA, Czeizel, E, Castilla, EE, Poletta, FA & Marazita, ML 2009, 'Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate', American Journal of Medical Genetics, Part A, vol. 149, no. 12, pp. 2673-2679. https://doi.org/10.1002/ajmg.a.33089
Neiswanger, Katherine ; Chirigos, Kevin W. ; Klotz, Cherise M. ; Cooper, Margaret E. ; Bardi, Kathleen M. ; Brandon, Carla A. ; Weinberg, Seth M. ; Vieira, Alexandre R. ; Martin, Rick A. ; Czeizel, E. ; Castilla, Eduardo E. ; Poletta, Fernando A. ; Marazita, Mary L. / Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 12. pp. 2673-2679.
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