Atlanto-Occipital Malformation, Osteoarthropathy, and Myelopathy in a Duroc Boar

Hélie, Pierre; Odin, Martin; Girard, Christiane

doi:10.1177/104063879901100215

Cited by 3 publications

(2 citation statements)

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“…Craniocervical junction abnormalities are rare diseases encompassing a range of phenotypes that have been identified in humans (Menezes et al 1980) and many domestic animals species (Leipold et al 1972; Mayhew et al 1978; Watson et al 1985, 1988; Schmidt et al 1993; Helie et al 1999; Seva et al 2008). In the horse, craniocervical junction abnormalities are termed occipitoatlantoaxial malformations (OAAM) and are characterized by an abnormal occiput, atlas (first cervical vertebra) and axis (second cervical vertebra).…”

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confidence: 99%

Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation

et al. 2017

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SummaryIn the horse, the term occipitoatlantoaxial malformation (OAAM) is used to describe a developmental defect in which the first cervical vertebra (atlas) resembles the base of the skull (occiput) and the second cervical vertebra (axis) resembles the atlas. Affected individuals demonstrate an abnormal posture and varying degrees of ataxia. The homeobox (HOX) gene cluster is involved in the development of both the axial and appendicular skeleton. Hoxd3-null mice demonstrate a strikingly similar phenotype to Arabian foals with OAAM. Whole-genome sequencing was performed in an OAAM-affected horse (OAAM1) and seven unaffected Arabian horses. Visual inspection of the raw reads within the region of HOXD3 identified a 2.7-kb deletion located 4.4 kb downstream of the end of HOXD4 and 8.2 kb upstream of the start of HOXD3. A genotyping assay revealed that both parents of OAAM1 were heterozygous for the deletion. Additional genotyping identified two of 162 heterozygote Arabians, and the deletion was not present in 371 horses of other breeds. Comparative genomics studies have revealed that this region is highly conserved across species and that the entire genomic region between Hoxd4 and Hoxd3 is transcribed in mice. Two additional Arabian foals diagnosed with OAAM (OAAM 2 and 3) were genotyped and did not have the 2.7-kb deletion. Closer examination of the phenotype in these cases revealed notable variation. OAAM3 also had facial malformations and a patent ductus arteriosus, and the actual malformation at the craniocervical junction differed. Genetic heterogeneity may exist across the HOXD locus in Arabian foals with OAAM.

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Section: Introductionmentioning

confidence: 99%

Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation

et al. 2017

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“…Moreover, both fusion and subluxation between the atlas and the axis may exist 6,13 . Although rare, it has been recorded mainly in horses, 3,13 and less frequently in cattle, 1,6 sheep, 10 a dromedary camel, 8 a pig, 4 a dog, 11 and a cat 12 . In goats, only 1 case of unilateral atlantooccipital fusion in a kid, which survived 18 hr, has been reported 7 .…”

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Occipitoatlantoaxial Malformation in an Adult Goat

et al. 2008

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Abstract. An occipitoatlantoaxial malformation was diagnosed in a 1-year-old Murciano-Granadina goat. At clinical examination, the head and cranial part of the neck were deviated to the right. Clinical signs of spinal cord or brain disease were not observed. At necropsy, morphological abnormalities were seen in the craniovertebral junction and cervical vertebrae, characterized by a firm attachment and incomplete articulation between the occipital bone and the atlas, and scoliosis in the cervical regions. The definitive diagnosis was bilateral asymmetrical occipitoatlantoaxial fusion with rotation of the atlas and atlantoaxial subluxation. To the authors' knowledge, this case report is the second occipitoatlantoaxial malformation described in a goat and the first description in an adult goat.

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Congenital, familial, and genetic disorders

2022

Large Animal Neurology

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Atlanto-Occipital Malformation, Osteoarthropathy, and Myelopathy in a Duroc Boar

Cited by 3 publications

References 2 publications

Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation

Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation

Occipitoatlantoaxial Malformation in an Adult Goat

Congenital, familial, and genetic disorders

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