mortality/aging
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• Background Sensitivity: high degree of perinatal lethality
• Background Sensitivity: 38% without showing any gross abnormalities
• Background Sensitivity: 44% with various craniofacial defects
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• Background Sensitivity: 18% survive perinatal period but are dead by weaning
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skeleton
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• 20% of neonates with agnathia and no other midline defects
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• abnormalities of cervical vertebrae
• axial skeleton otherwise normal
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craniofacial
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• craniofacial features vary from normal to severe rostral truncations
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• 20% of neonates with agnathia and no other midline defects
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• 70% with midline defects
• cyclopia or synophthalmia
• long nasal process above the eye field
• single nostril combined with agnathia
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• remains fused in the midline at E9.5
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• single nostril often seen in association with agnathia and various eye defects
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vision/eye
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• often seen in association with single nostril and agnathia
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• often seen in association with single nostril and agnathia
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respiratory system
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• single nostril often seen in association with agnathia and various eye defects
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hearing/vestibular/ear
digestive/alimentary system
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• normal when the mandibular arch is normal
• arrested at early bud stage when mandibular arch is primitive, leads to hypoplasia, dysplasia, or aplasia at birth
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• absent when holoprosencephaly is severe or when agnathia is present
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endocrine/exocrine glands
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• normal when the mandibular arch is normal
• arrested at early bud stage when mandibular arch is primitive, leads to hypoplasia, dysplasia, or aplasia at birth
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• absent when holoprosencephaly is severe or when agnathia is present
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embryo
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• remains fused in the midline at E9.5
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growth/size/body
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• 10% of neonates have lost the most rostral parts of the head
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• single nostril often seen in association with agnathia and various eye defects
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