Literature DB >> 18267883

Phenotypic diagnosis of dwarfism in six Friesian horses.

W Back1, J J van der Lugt, P G J Nikkels, A J M van den Belt, J H van der Kolk, T A E Stout.   

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.

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Year:  2008        PMID: 18267883     DOI: 10.2746/042516408X278201

Source DB:  PubMed          Journal:  Equine Vet J        ISSN: 0425-1644            Impact factor:   2.888


  3 in total

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Authors:  Shermin de Silva; U Sameera Weerathunga; Tennekoon V Pushpakumara
Journal:  BMC Res Notes       Date:  2014-12-19

2.  Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

Authors:  Peter A Leegwater; Manon Vos-Loohuis; Bart J Ducro; Iris J Boegheim; Frank G van Steenbeek; Isaac J Nijman; Glen R Monroe; John W M Bastiaansen; Bert W Dibbits; Leanne H van de Goor; Ids Hellinga; Willem Back; Anouk Schurink
Journal:  BMC Genomics       Date:  2016-10-28       Impact factor: 3.969

3.  Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.

Authors:  Nima Rafati; Lisa S Andersson; Sofia Mikko; Chungang Feng; Terje Raudsepp; Jessica Pettersson; Jan Janecka; Ove Wattle; Adam Ameur; Gunilla Thyreen; John Eberth; John Huddleston; Maika Malig; Ernest Bailey; Evan E Eichler; Göran Dalin; Bhanu Chowdary; Leif Andersson; Gabriella Lindgren; Carl-Johan Rubin
Journal:  G3 (Bethesda)       Date:  2016-07-07       Impact factor: 3.154

  3 in total

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