craniofacial
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• at E10.5, embryos exhibit a range of orofacial malformations with variable expressivity
• in severely affected embryos, failure of maxillary and mandibular structures occurs in conjunction with microphthalmia or anophthalmia and holoprosencephaly
• craniofacial defects are frequently bilateral; however, a significant proportion of embryos show asymmetric defects, esp. in the mandible
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• at E17.5, the basisphenoid shows long, ectopic lateral processes that pass below, but are not fused to the tympanic bullae
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• at E17.5, the basisphenoid bone is hypoplastic
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• at E17.5, the zygomatic arch is reduced in size
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• at E17.5, the mandibular skeleton is severely dysmorphic and the hemimandibles are prematurely fused distally
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• at E10.5, the mandible is variably affected, ranging from mild mandibular hypoplasia to agnathia
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• at E10.5, the mandible is variably affected, ranging from mild mandibular hypoplasia to agnathia
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• at E17.5, the maxilla/premaxilla are mildly hypoplastic
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• at E13.5, maxillary hypoplasia often accompanies mandibular hypoplasia
• at E17.5, the maxilla/premaxilla are mildly hypoplastic
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• at E17.5, the prepalatine bones are absent, and the palatine bones are reduced in length posteriorly
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• at E13.5, embryos with aglossia exhibit expanded and irregular palatal shelves
• however, when the tongue is present, palatal shelves take on a more normal morphology
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• at E13.5, embryos with aglossia exhibit dramatically expanded and bulbous palatal shelves that fill most of the oral cavity
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• in severely affected E13.5 embryos, no patent oral cavity is detected, and the mandibular rudiment is continuous with the skull base
• however, mildly affected embryos with mandibular hypoplasia and microglossia have a patent oral cavity
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• late-gestation embryos exhibit a cleft secondary palate
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• when the tongue is present, palatal shelves are delayed in their elevation
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• at E13.5, embryos with micrognathia typically fail to form a tongue (aglossia)
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• at E13.5, micrognathia is less commonly associated with severe hypoplasia of the tongue
• however, embryos with mild to no facial hypoplasia exhibit a relatively normal tongue
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• overt cyclopia with a rostral proboscis is observed in 2 embryos
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digestive/alimentary system
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• at E13.5, embryos with aglossia exhibit expanded and irregular palatal shelves
• however, when the tongue is present, palatal shelves take on a more normal morphology
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• at E13.5, embryos with aglossia exhibit dramatically expanded and bulbous palatal shelves that fill most of the oral cavity
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• late-gestation embryos exhibit a cleft secondary palate
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• when the tongue is present, palatal shelves are delayed in their elevation
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• at E13.5, embryos with micrognathia typically fail to form a tongue (aglossia)
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• at E13.5, micrognathia is less commonly associated with severe hypoplasia of the tongue
• however, embryos with mild to no facial hypoplasia exhibit a relatively normal tongue
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growth/size/body
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• at E13.5, embryos with aglossia exhibit expanded and irregular palatal shelves
• however, when the tongue is present, palatal shelves take on a more normal morphology
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• at E13.5, embryos with aglossia exhibit dramatically expanded and bulbous palatal shelves that fill most of the oral cavity
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• in severely affected E13.5 embryos, no patent oral cavity is detected, and the mandibular rudiment is continuous with the skull base
• however, mildly affected embryos with mandibular hypoplasia and microglossia have a patent oral cavity
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• late-gestation embryos exhibit a cleft secondary palate
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• when the tongue is present, palatal shelves are delayed in their elevation
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• at E13.5, embryos with micrognathia typically fail to form a tongue (aglossia)
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• at E13.5, micrognathia is less commonly associated with severe hypoplasia of the tongue
• however, embryos with mild to no facial hypoplasia exhibit a relatively normal tongue
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• overt cyclopia with a rostral proboscis is observed in 2 embryos
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nervous system
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• a single, small forebrain vesicle is frequently observed at E10.5
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vision/eye
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• overt cyclopia with a rostral proboscis is observed in 2 embryos
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• microphthalmia or anophthalmia is occasionally observed
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• microphthalmia or anophthalmia is occasionally observed
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skeleton
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• at E17.5, the basisphenoid shows long, ectopic lateral processes that pass below, but are not fused to the tympanic bullae
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• at E17.5, the basisphenoid bone is hypoplastic
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• at E17.5, the zygomatic arch is reduced in size
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• at E17.5, the mandibular skeleton is severely dysmorphic and the hemimandibles are prematurely fused distally
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• at E10.5, the mandible is variably affected, ranging from mild mandibular hypoplasia to agnathia
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• at E10.5, the mandible is variably affected, ranging from mild mandibular hypoplasia to agnathia
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• at E17.5, the maxilla/premaxilla are mildly hypoplastic
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• at E13.5, maxillary hypoplasia often accompanies mandibular hypoplasia
• at E17.5, the maxilla/premaxilla are mildly hypoplastic
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• at E17.5, the prepalatine bones are absent, and the palatine bones are reduced in length posteriorly
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respiratory system
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• at E13.5, severely affected embryos show fusion of the mandibular rudiment with the roof of the oral cavity, resulting in complete occlusion of the pharynx; the pharynx distal to the occluded oral cavity is typically distended
• however, when the tongue is present, no occlusion of the pharynx is observed
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hearing/vestibular/ear
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• at E17.5, the tympanic bullae are translocated medially towards a hypoplastic basisphenoid
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