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

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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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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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Neiswanger, Kknacct@pitt.eduKNACCT
Chirigos, KW
Klotz, CM
Cooper, ME
Bardi, KM
Brandon, CA
Weinberg, SM
Vieira, ARarv11@pitt.eduARV11
Martin, RA
Czeizel, AE
Castilla, EE
Poletta, FA
Marazita, MLmarazita@pitt.eduMARAZITA
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


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