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.
References
Oct 20, 1975·Humangenetik·L HirthH W Goedde
Aug 1, 1986·Journal of Medical Genetics·A Schinzel, M Kläusler
Jun 1, 1974·Forensic Science·Y Tsuchihashi
May 1, 1997·Teratology·A E Czeizel
Sep 17, 1998·American Journal of Medical Genetics·L A CroenM M Tolarová
Jul 7, 2000·Forensic Science International : Synergy·M Alvarez SeguiF Verdu Pascual
Sep 10, 2002·Nature Genetics·Shinji KondoJeffrey C Murray
Mar 5, 2004·European Journal of Orthodontics·Maria Rizos, Meropi N Spyropoulos
Aug 20, 2004·The New England Journal of Medicine·Theresa M ZuccheroJeffrey C Murray
Nov 24, 2004·American Journal of Human Genetics·Luca ScapoliFrancesco Carinci
May 27, 2005·Current Opinion in Genetics & Development·Astanand Jugessur, Jeffrey C Murray
Jul 5, 2005·Journal of Medical Genetics·C SrichomthongV Shotelersuk
Aug 13, 2005·American Journal of Medical Genetics. Part a·Susan H BlantonJacqueline T Hecht
Sep 1, 2005·European Journal of Human Genetics : EJHG·Michella GhassibéMiikka Vikkula
Nov 12, 2005·Current Opinion in Pediatrics·Andrew C Lidral, Lina M Moreno
Jan 13, 2006·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Seth M WeinbergMary L Marazita
May 27, 2006·Forensic Science International : Synergy·Inês Morais CaldasAmérico Afonso
Sep 22, 2006·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Margaret E CooperMary L Marazita
Sep 26, 2006·Journal of Dental Research·X DuY Tang
Feb 24, 2007·American Journal of Medical Genetics. Part a·Alexandre R VieiraJeffrey C Murray
Apr 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ji Wan ParkTerri H Beaty
Jul 4, 2007·International Journal of Pediatric Otorhinolaryngology·Francesco CarinciFurio Pezzetti
Aug 21, 2007·American Journal of Medical Genetics. Part a·Alexandre R VieiraEduardo E Castilla
Nov 15, 2007·American Journal of Medical Genetics. Part a·F A PolettaJ S Lopez-Camelo
Jan 26, 2008·Journal of Dental Research·A R Vieira
Feb 6, 2008·American Journal of Medical Genetics. Part a·Stefanie BirnbaumElisabeth Mangold
Feb 19, 2008·Genetic Epidemiology·Astanand JugessurJeffrey C Murray
May 3, 2008·Archives of Oral Biology·Alexandre R VieiraRenato Menezes
Sep 18, 2008·American Journal of Medical Genetics. Part a·José SuazoRafael Blanco
Jan 1, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Wei TangWeidong Tian
Jun 19, 2009·The Laryngoscope·Gillian R DiercksJoseph Haddad
Citations
Feb 19, 2011·Nature Reviews. Genetics·Michael J DixonJeffrey C Murray
May 7, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Fedik RahimovJeffrey C Murray
Feb 4, 2014·Journal of Forensic and Legal Medicine·Magda A EldomiatySami A Algaidi
Jun 19, 2012·Annual Review of Genomics and Human Genetics·Mary L Marazita
Jan 17, 2016·Developmental Biology·Zachary R ConleyPaul A Trainor
Oct 15, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Elizabeth J Leslie, Mary L Marazita
Oct 18, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Eduardo E Castilla, Pierpaolo Mastroiacovo
Aug 21, 2013·American Journal of Medical Genetics. Part a·Elizabeth J LeslieJeffrey C Murray
Apr 18, 2014·Journal of Anatomy·Steven F MillerLina M Moreno Uribe
Oct 6, 2015·Molecular Genetics & Genomic Medicine·Timothy C Cox
Mar 1, 2014·Annals of Human Biology·Namita Alok SharmaToyosi Ilesanmi
Feb 26, 2015·European Journal of Dentistry·Asli SubasiogluMunis Dundar
Jan 21, 2014·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Clarissa FontouraAriadne Letra
Jan 21, 2014·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Rudolf ReiterWalther Vogel
Jul 15, 2015·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·W A McBrideP A Mossey
Sep 9, 2017·American Journal of Medical Genetics. Part a·Jasmien RoosenboomSeth M Weinberg
May 26, 2016·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Priyankar Singh, Dipesh B Nathani
Apr 1, 2017·Molecular Genetics & Genomic Medicine·Lord Jephthah Joojo GowansAzeez Butali
Aug 14, 2020·Genes·Beau SylvesterPedro A Sanchez-Lara
Oct 28, 2019·Genes·Bénédicte DemeerMiikka Vikkula
Nov 3, 2020·The Journal of Craniofacial Surgery·Yanyang WangDi Wu
Mar 12, 2021·Frontiers in Genetics·Karlijne IndencleefPeter Claes