title: Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients.
abstract: The phenotypic variability of non-syndromic cleft lip (CL) is broad. We demonstrate that the prevalence of orbicularis oris (OO) muscle anomalies, detectable only by ultrasound, is higher in first-degree relatives of individuals with overt CL than in the general population. These findings suggest that occult OO defects may be part of the spectrum of the CL phenotype, that offspring of individuals with such defects are at an increased risk to develop overt CL, and that ultrasound may be a useful tool in future population studies designed to identify CL susceptibility genes.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. martin_r@kids.wustl.edu
authors.forename: R A
authors.initials: RA
authors.lastname: Martin
authors.forename: V
authors.initials: V
authors.lastname: Hunter
authors.forename: W
authors.initials: W
authors.lastname: Neufeld-Kaiser
authors.forename: P
authors.initials: P
authors.lastname: Flodman
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
authors.forename: D
authors.initials: D
authors.lastname: Furnas
authors.forename: K A
authors.initials: KA
authors.lastname: Martin
mesh_terms: D002648:Child; D002971:Cleft Lip; D005152:Facial Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006801:Humans; D008046:Lip / Q000000981:diagnostic imaging; D010641:Phenotype; D014463:Ultrasonography