Neiswanger, K and Chirigos, KW and Klotz, CM and Cooper, ME and Bardi, KM and Brandon, CA and Weinberg, SM and Vieira, AR and Martin, RA and Czeizel, AE and Castilla, EE and Poletta, FA and 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, 149 (12).
2673 - 2679.
ISSN 1552-4825
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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. © 2009 Wiley-Liss, Inc.
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Details
Item Type: |
Article
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Status: |
Published |
Creators/Authors: |
Creators | Email | Pitt Username | ORCID  |
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Neiswanger, K | knacct@pitt.edu | KNACCT | | Chirigos, KW | | | | Klotz, CM | | | | Cooper, ME | | | | Bardi, KM | | | | Brandon, CA | | | | Weinberg, SM | | | | Vieira, AR | arv11@pitt.edu | ARV11 | | Martin, RA | | | | Czeizel, AE | | | | Castilla, EE | | | | Poletta, FA | | | | Marazita, ML | marazita@pitt.edu | MARAZITA | |
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Date: |
1 December 2009 |
Date Type: |
Publication |
Journal or Publication Title: |
American Journal of Medical Genetics, Part A |
Volume: |
149 |
Number: |
12 |
Page Range: |
2673 - 2679 |
DOI or Unique Handle: |
10.1002/ajmg.a.33089 |
Schools and Programs: |
School of Dental Medicine > Dental Science |
Refereed: |
Yes |
ISSN: |
1552-4825 |
MeSH Headings: |
Case-Control Studies; Cleft Lip--complications; Cleft Lip--pathology; Cleft Palate--complications; Cleft Palate--pathology; Female; Humans; Lip--abnormalities; Male; Phenotype; Sex Characteristics |
Other ID: |
NLM NIHMS146491, NLM PMC2787912 |
PubMed Central ID: |
PMC2787912 |
PubMed ID: |
19921634 |
Date Deposited: |
20 Sep 2012 20:02 |
Last Modified: |
20 Feb 2020 13:55 |
URI: |
http://d-scholarship.pitt.edu/id/eprint/14327 |
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