We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976). This may be recessively inherited syndrome
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Causative alleles for chondrodysplastic dwarfism, factor XI deficiency, and factor XIII deficiency in the Kumamoto sub-breed of Japanese Brown cattle.
Anim Sci J
November 2023
Department of Animal Science, School of Agriculture, Tokai University, Kumamoto, Japan.
Japanese Brown cattle are the second most popular Wagyu breed, and the Kumamoto sub-breed shows better daily gain and carcass weight. One of the breeding objectives for this sub-breed is to reduce genetic defects. Chondrodysplastic dwarfism and factor VIII deficiency have been identified as genetic diseases in the Kumamoto sub-breed.
View Article and Find Full Text PDFAggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism.
J Equine Vet Sci
August 2021
São Paulo State University (UNESP), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science, Botucatu 18618-681, Brazil. Electronic address:
Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene.
View Article and Find Full Text PDFEvaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses.
Sci Rep
September 2020
School of Veterinary Medicine and Animal Science, São Paulo State University (Unesp), Botucatu, 18618-681, Brazil.
Article Synopsis
- Chondrodysplastic dwarfism in Miniature horses is linked to mutations in the aggrecan (ACAN) gene, with four known variants previously identified.
- A new study found a missense SNP in exon 11 of the ACAN gene, specifically the c.6465A > T variant, associated with the dwarf phenotype present in many affected Miniature horses.
- Genetic testing suggests that this variant may be a marker for complex interactions in the Miniature horse genome, rather than being prevalent in other normal Miniature horses or large breed horses.
A structural UGDH variant associated with standard Munchkin cats.
BMC Genet
June 2020
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover (Foundation), 30559, Hannover, Germany.
Background: Munchkin cats were founded on a naturally occurring mutation segregating into long-legged and short-legged types. Short-legged cats showed disproportionate dwarfism (chondrodysplasia) in which all four legs are short and are referred as standard Munchkin cats. Long-legged animals are referred as non-standard Munchkin cats.
View Article and Find Full Text PDFHeterozygotes for ACAN dwarfism alleles in horses have reduced stature.
Anim Genet
June 2020
Department of Veterinary Science, MH Gluck Equine Research Center, University of Kentucky, Lexington, KY, 40546, USA.
Homozygous and compound heterozygous Miniature horses for ACAN alleles D1, D2, D3* and D4 exhibit chondrodysplastic dwarfism (OMIA 001271-9796). In a previous study, the carrier rate for these four alleles, combined, was 26.2%.
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