title: Phenotypic characteristics of hydrocephalus in stillborn Friesian foals.
abstract: Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this condition. Four stillborn Friesian foals with hydrocephalus were examined macroscopically and microscopically and compared with 2 normal stillborn Friesian foals without hydrocephalus. In all clinical cases, tetraventricular and venous dilatations were observed, together with malformation of the petrosal bone and, as a result, narrowing of the jugular foramen. These observations suggest a communicative hydrocephalus with a diminished absorption of cerebrospinal fluid into the systemic circulation at the venous sinuses due to a distorted, nonfunctional jugular foramen. This type of hydrocephalus is also recognized in humans and dogs and has been linked genetically to chondrodysplasia; this has already been recognized in dwarfism, which is another monogenetic defect in Friesian horses.
authors.affiliation: Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 112-114, NL-3584 CM Utrecht, the Netherlands. Email: W.Back@uu.nl.
authors.forename: K D
authors.initials: KD
authors.lastname: Sipma
authors.forename: P
authors.initials: P
authors.lastname: Cornillie
authors.forename: M N
authors.initials: MN
authors.lastname: Saulez
authors.forename: T A E
authors.initials: TA
authors.lastname: Stout
authors.forename: G
authors.initials: G
authors.lastname: Voorhout
authors.forename: W
authors.initials: W
authors.lastname: Back
mesh_terms: D000818:Animals; D001947:Breeding; D003251:Constriction, Pathologic / Q000473:pathology / Q000662:veterinary; D005260:Female; D006734:Horse Diseases / Q000235:genetics / Q000473:pathology*; D006736:Horses; D006849:Hydrocephalus / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D008297:Male; D010641:Phenotype; D019291:Skull Base / Q000473:pathology; D050497:Stillbirth / Q000662:veterinary
keywords: horse; hydrocephalus; jugular foramen; phenotype; stillbirth