Article
Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate
Registro en:
NEISWANGER, Katherine; et al. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. Am J Med Genet A, v.149 A, n.12, p. 2673–2679, 2009.
1552-4825
10.1002/ajmg.a.33089
1552-4833
Autor
Neiswanger, Katherine
Walker, K.
Chirigos, Kevin W.
Klotz, Cherise M.
Cooper, Margaret E.
Bardi, Kathleen M.
Brandon, Carla A.
Weinberg, Seth M.
Vieira, Alexandre R.
Martin, Rick A.
Czeizel, Andrew E.
Castilla, Eduardo E.
Poletta, Fernando A.
Marazita, Mary L.
Resumen
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. 2030-01-01