Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate.
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.
Neiswanger
Katherine
K
Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 14219, USA. knacct@pitt.edu
Walker
K
K
Chirigos
Kevin W
KW
Klotz
Cherise M
CM
Cooper
Margaret E
ME
Bardi
Kathleen M
KM
Brandon
Carla A
CA
Weinberg
Seth M
SM
Vieira
Alexandre R
AR
Martin
Rick A
RA
Czeizel
Andrew E
AE
Castilla
Eduardo E
EE
Poletta
Fernando A
FA
Marazita
Mary L
ML
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