TY - JOUR
T1 - The Pittsburgh Oral-Facial Cleft study
T2 - Expanding the cleft phenotype. Background and justification
AU - Weinberg, Seth M.
AU - Neiswanger, Katherine
AU - Martin, Rick A.
AU - Mooney, Mark P.
AU - Kane, Alex A.
AU - Wenger, Sharon L.
AU - Losee, Joseph
AU - Deleyiannis, Frederick
AU - Ma, Lian
AU - De Salamanca, Javier E.
AU - Czeizel, Andrew E.
AU - Marazita, Mary L.
PY - 2006/1
Y1 - 2006/1
N2 - The Pittsburgh Oral-Facial Cleft study was begun in 1993 with the primary goal of identifying genes involved in nonsyndromic orofacial clefts in a variety of populations worldwide. Based on the results from a number of pilot studies and preliminary genetic analyses, a new research focus was added to the Pittsburgh Oral-Facial Cleft study in 1999: to elucidate the role that associated phenotypic features play in the familial transmission patterns of orofacial clefts in order to expand the definition of the nonsyndromic cleft phenotype. The purpose of this paper is to provide a comprehensive review of phenotypic features associated with nonsyndromic orofacial clefts. These features include fluctuating and directional asymmetry, non-right-handedness, dermatoglyphic patterns, craniofacial morphology, orbicularis oris muscle defects, dental anomalies, structural brain and vertebral anomalies, minor physical anomalies, and velopharyngeal incompetence.
AB - The Pittsburgh Oral-Facial Cleft study was begun in 1993 with the primary goal of identifying genes involved in nonsyndromic orofacial clefts in a variety of populations worldwide. Based on the results from a number of pilot studies and preliminary genetic analyses, a new research focus was added to the Pittsburgh Oral-Facial Cleft study in 1999: to elucidate the role that associated phenotypic features play in the familial transmission patterns of orofacial clefts in order to expand the definition of the nonsyndromic cleft phenotype. The purpose of this paper is to provide a comprehensive review of phenotypic features associated with nonsyndromic orofacial clefts. These features include fluctuating and directional asymmetry, non-right-handedness, dermatoglyphic patterns, craniofacial morphology, orbicularis oris muscle defects, dental anomalies, structural brain and vertebral anomalies, minor physical anomalies, and velopharyngeal incompetence.
KW - Associated anomalies
KW - Cleft lip
KW - Cleft lip and palate
KW - Phenotype
KW - Unaffected relatives
UR - http://www.scopus.com/inward/record.url?scp=32044438969&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=32044438969&partnerID=8YFLogxK
U2 - 10.1597/04-122R1.1
DO - 10.1597/04-122R1.1
M3 - Review article
C2 - 16405378
AN - SCOPUS:32044438969
SN - 1055-6656
VL - 43
SP - 7
EP - 20
JO - Cleft Palate-Craniofacial Journal
JF - Cleft Palate-Craniofacial Journal
IS - 1
ER -