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

✍ Scribed by 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; Andrew E. Czeizel; Eduardo E. Castilla; Fernando A. Poletta; Mary L. Marazita

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 166 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33089

✦ Synopsis

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. © 2009 Wiley‐Liss, Inc.