title: Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate.
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 were more frequent in CL/P families from Argentina than in CL/P families from the 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.
authors.affiliation: Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 14219, USA. knacct@pitt.edu
authors.forename: Katherine
authors.initials: K
authors.lastname: Neiswanger
authors.forename: K
authors.initials: K
authors.lastname: Walker
authors.forename: Kevin W
authors.initials: KW
authors.lastname: Chirigos
authors.forename: Cherise M
authors.initials: CM
authors.lastname: Klotz
authors.forename: Margaret E
authors.initials: ME
authors.lastname: Cooper
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Bardi
authors.forename: Carla A
authors.initials: CA
authors.lastname: Brandon
authors.forename: Seth M
authors.initials: SM
authors.lastname: Weinberg
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
authors.forename: Rick A
authors.initials: RA
authors.lastname: Martin
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Czeizel
authors.forename: Eduardo E
authors.initials: EE
authors.lastname: Castilla
authors.forename: Fernando A
authors.initials: FA
authors.lastname: Poletta
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
mesh_terms: D016022:Case-Control Studies; D002971:Cleft Lip / Q000150:complications* / Q000473:pathology*; D002972:Cleft Palate / Q000150:complications* / Q000473:pathology*; D005260:Female; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D012727:Sex Characteristics