Cleft lip and palate: understanding genetic and environmental influences

MJ Dixon, ML Marazita, TH Beaty… - Nature Reviews Genetics, 2011 - nature.com
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can
occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic …

Classification, epidemiology, and genetics of orofacial clefts

SE Watkins, RE Meyer… - Clinics in plastic …, 2014 - plasticsurgery.theclinics.com
There is considerable ambiguity in the use of terminology when referring to orofacial clefts
(OFCs). Many clinicians incorrectly refer to OFCs as deformities, which are said to be the …

Genetics of nonsyndromic orofacial clefts

F Rahimov, A Jugessur… - The Cleft palate …, 2012 - journals.sagepub.com
With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts
are the most common craniofacial birth defects in humans. Like other complex disorders …

SNPs associated with testosterone levels influence human facial morphology

J Roosenboom, K Indencleef, MK Lee… - Frontiers in …, 2018 - frontiersin.org
Many factors influence human facial morphology, including genetics, age, nutrition,
biomechanical forces, and endocrine factors. Moreover, facial features clearly differ between …

IRF6 mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families

EJ Leslie, DC Koboldt, CJ Kang, L Ma… - Clinical …, 2016 - Wiley Online Library
Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome
characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS …

Subphenotyping and classification of orofacial clefts: need for orofacial cleft subphenotyping calls for revised classification

WA McBride, GT McIntyre, K Carroll… - The Cleft Palate …, 2016 - journals.sagepub.com
Nonsyndromic orofacial clefting (OFC) describes a range of phenotypes that represent the
most common craniofacial birth defects in humans, with an overall birth prevalence of 1: 700 …

Nonlinear gene expression‐phenotype relationships contribute to variation and clefting in the A/WySn mouse

RM Green, CL Leach, VM Diewert… - Developmental …, 2019 - Wiley Online Library
Background Cleft lip and palate is one of the most common human birth defects, but the
underlying etiology is poorly understood. The A/WySn mouse is a spontaneously occurring …

Association of cleft lip and palate on mother-to-infant bonding: a cross-sectional study in the Japan Environment and Children's Study (JECS)

S Tsuchiya, M Tsuchiya, H Momma, T Koseki… - BMC pediatrics, 2019 - Springer
Background Cleft lip and/or palate is among the most prevalent congenital birth defects, and
negatively affects maternal psychological status and may consequently result in higher …

GWAS reveals new recessive loci associated with non-syndromic facial clefting

M Camargo, D Rivera, L Moreno, AC Lidral… - European journal of …, 2012 - Elsevier
We have applied a GWAS to 40 consanguineous families segregating cases of non-
syndromic cleft lip with or without cleft palate (NS CL/P)(a total of 160 affected and …

Non-syndromic cleft lip and palate polymorphisms affect normal lip morphology

C Wilson-Nagrani, S Richmond, L Paternoster - Frontiers in genetics, 2018 - frontiersin.org
Non-syndromic cleft lip with or without palate (NSCL/P) is a frequent malformation of the
facial region. Genetic variants (SNPs) within nineteen loci have been previously associated …