title: Cleft palate with autosomal recessive transmission in Brittany spaniels.
abstract: In the course of maintaining a large colony of Brittany spaniels for studying a dominantly inherited motor neuron trait, cases of sporadic complete cleft palate were observed. Without intervention, the pups with cleft palate that attempt to nurse, aspirate and die. In this study, we report on the incidence of cleft palate in this dog kindred, describe the gross morphologic characteristics of the cleft, and present a morphometric analysis of the skull of two of the cleft palate pups and one unaffected pup that died at birth. Our data thus far indicate 26.9% incidence of cleft palate in the colony. Pedigree analysis indicates that this cleft palate trait is inherited as an autosomal recessive. High resolution computed tomography scans of the pup heads were used in morphometric comparison of normal and cleft palate pups. We found specific morphologic differences between the cranial base and palate of normal and cleft palate pups. Plans for future studies of the genetics and growth and development of this animal model are discussed. This canine cleft palate trait provides an ideal model for studying a malformation common in humans.
authors.affiliation: Department of Cell Biology and Anatomy, John Hopkins University, Baltimore, Maryland.
authors.forename: J T
authors.initials: JT
authors.lastname: Richtsmeier
authors.forename: G H
authors.initials: GH
authors.lastname: Sack
authors.forename: H M
authors.initials: HM
authors.lastname: Grausz
authors.forename: L C
authors.initials: LC
authors.lastname: Cork
mesh_terms: D000818:Animals; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D004195:Disease Models, Animal; D004285:Dogs / Q000002:abnormalities* / Q000235:genetics; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D015994:Incidence; D008297:Male; D010375:Pedigree; D012744:Sex Ratio; D012886:Skull / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed