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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
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| Gene | |
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| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
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| Chromosome | |
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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