title: Bowen-Conradi syndrome: a clinical and genetic study.
abstract: The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi syndrome [Bowen and Conradi 1976: Birth Defects: Orig Artic Ser XII(6):101-108]. We ascertained 39 cases and personally examined almost all. For those who were not seen, their clinical record were scrutinized. Pedigree analysis of all 39 was done and kinship coefficients computed. The birth prevalence was estimated to be 1/355 live births.
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital and the University of Calgary, Canada. brian.lowry@calgaryhealthregion.ca
authors.forename: R B
authors.initials: RB
authors.lastname: Lowry
authors.forename: A M
authors.initials: AM
authors.lastname: Innes
authors.forename: F P
authors.initials: FP
authors.lastname: Bernier
authors.forename: D R
authors.initials: DR
authors.lastname: McLeod
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
authors.forename: B
authors.initials: B
authors.lastname: Chodirker
authors.forename: S L
authors.initials: SL
authors.lastname: Marles
authors.forename: M J
authors.initials: MJ
authors.lastname: Crumley
authors.forename: J C
authors.initials: JC
authors.lastname: Loredo-Osti
authors.forename: K
authors.initials: K
authors.lastname: Morgan
authors.forename: T M
authors.initials: TM
authors.lastname: Fujiwara
mesh_terms: D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics / Q000503:physiopathology*