title: Oculoauriculovertebral anomaly: segregation analysis.
abstract: Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284-7809.
authors.forename: C I
authors.initials: CI
authors.lastname: Kaye
authors.forename: A O
authors.initials: AO
authors.lastname: Martin
authors.forename: B R
authors.initials: BR
authors.lastname: Rollnick
authors.forename: K
authors.initials: K
authors.lastname: Nagatoshi
authors.forename: J
authors.initials: J
authors.lastname: Israel
authors.forename: M
authors.initials: M
authors.lastname: Hermanoff
authors.forename: B
authors.initials: B
authors.lastname: Tropea
authors.forename: J T
authors.initials: JT
authors.lastname: Richtsmeier
authors.forename: N E
authors.initials: NE
authors.lastname: Morton
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008957:Models, Genetic; D015233:Models, Statistical; D010641:Phenotype