mortality/aging
• all homozygotes dead by the end of the first week after birth
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• about 50% die at birth
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skeleton
• greater horn sometimes fused to thyroid cartilage
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• reduced in size
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• dorsally associated cartilage of thyroid cartilage is missing
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• the inferior horns are absent
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• neural arch resembles more posterior cervical vertebrae (C3-C5)
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• atlas missing, with small cartilage remnants
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nervous system
• partial deletion of cranial nerve IX or fusion to cranial nerve X, increased penetrance
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endocrine/exocrine glands
• low penetrance of partially fused ultimobranchial bodies
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respiratory system
• dorsally associated cartilage of thyroid cartilage is missing
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• the inferior horns are absent
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craniofacial
• greater horn sometimes fused to thyroid cartilage
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• reduced in size
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embryo
• low penetrance of partially fused ultimobranchial bodies
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