title: The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.
abstract: 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.
authors.affiliation: Department of Anthropology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA.
authors.forename: Seth M
authors.initials: SM
authors.lastname: Weinberg
authors.forename: Katherine
authors.initials: K
authors.lastname: Neiswanger
authors.forename: Rick A
authors.initials: RA
authors.lastname: Martin
authors.forename: Mark P
authors.initials: MP
authors.lastname: Mooney
authors.forename: Alex A
authors.initials: AA
authors.lastname: Kane
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Wenger
authors.forename: Joseph
authors.initials: J
authors.lastname: Losee
authors.forename: Frederick
authors.initials: F
authors.lastname: Deleyiannis
authors.forename: Lian
authors.initials: L
authors.lastname: Ma
authors.forename: Javier E
authors.initials: JE
authors.lastname: De Salamanca
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Czeizel
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
mesh_terms: D001921:Brain / Q000002:abnormalities; D002508:Cephalometry; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics; D003878:Dermatoglyphics; D005152:Facial Muscles / Q000002:abnormalities; D007839:Functional Laterality; D006801:Humans; D010414:Pennsylvania; D010641:Phenotype; D013131:Spine / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000235:genetics; D014681:Velopharyngeal Insufficiency / Q000235:genetics