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Occipitoatlantoaxial Malformation (OAAM), also known as Atlanto-Occipital Fusion, is a skeletal defect which causes the first cervical vertebra (atlas) to resemble the base of the skull (occiput), and the second cervical vertebra (axis) to resemble the atlas.

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Specifiche

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Occipitoatlantoaxial Malformation (OAAM), also known as Atlanto-Occipital Fusion, is a skeletal defect which causes the first cervical vertebra (atlas) to resemble the base of the skull (occiput), and the second cervical vertebra (axis) to resemble the atlas. The disorder is found in the Arabian horse, and is caused by a recessive mutation to the gene HOXD3.

Caratteristiche cliniche

Clinical features include abnormal head position, progressive ataxia, extended neck posture and visible unevenness along the cervical spine. OAAM affects the mobility of the neck, which is characterised as loss of extension and flexibility. Affected foals may be stillborn, and surviving horses are likely to develop defects such as ataxia and tetraparesis.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 28111759

Omia ID: 81

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