title: Phenotypic diagnosis of dwarfism in six Friesian horses.
abstract: An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than the limbs and ribs leading to the characteristic disproportional growth disturbance. Thus, adult dwarfs exhibit a normal, but a relatively larger head conformation, a broader chest with narrowing at the costochondral junction, a disproportionally long back, abnormally short limbs, hyperextension of the fetlocks and narrow long-toed hooves. Furthermore, a dysplastic metaphysis of the distal metacarpus and metatarsus is radiographically evident. Microscopic analysis of the growth plates at the costochondral junction shows an irregular transition from cartilage to bone, and thickening and disturbed formation of chondrocyte columns, which is similar to findings in osteochondrodysplasia.
authors.affiliation: Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 114, NL-3584 CM Utrecht, The Netherlands.
authors.forename: W
authors.initials: W
authors.lastname: Back
authors.forename: J J
authors.initials: JJ
authors.lastname: van der Lugt
authors.forename: P G J
authors.initials: PG
authors.lastname: Nikkels
authors.forename: A J M
authors.initials: AJ
authors.lastname: van den Belt
authors.forename: J H
authors.initials: JH
authors.lastname: van der Kolk
authors.forename: T A E
authors.initials: TA
authors.lastname: Stout
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D004392:Dwarfism / Q000175:diagnosis / Q000473:pathology / Q000662:veterinary*; D005260:Female; D006734:Horse Diseases / Q000175:diagnosis* / Q000473:pathology; D006736:Horses / Q000033:anatomy & histology*; D008297:Male; D010641:Phenotype