Analysis Tools
mortality/aging
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• all homozygotes die within 24 hours of birth due to respiratory difficulty
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respiratory system
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• severely affected homozygotes die of respiratory distress
• when recovered by C-section, homozygotes with cleft palate and cleft lip can be stimulated to breathe regularly by mechanical stimulation; however, when stimulation is terminated, homozygotes become gradually cyanotic and die within a few hours
• homozygotes without cleft lip and a relatively narrow cleft palate are able to breathe normally, but if placed with a foster mother they die within 24 hrs from starvation
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craniofacial
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• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed
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cleft upper lip
(
J:274
)
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• at birth, 13 of 30 homozygotes show cleft lip and palate
• 7 of these 13 homozygotes display bilateral cleft lip, 2 show left-sided cleft lip, and 2 show right-sided cleft lip; the side affected was not noted in the remaining 2 cases
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• 7 of 13 homozygotes display bilateral cleft lip
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• 2 show left-sided cleft lip and 2 show right-sided cleft lip
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cleft palate
(
J:274
)
|
• at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate
• cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed
• one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed
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skeleton
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• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed
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behavior/neurological
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• homozygotes without cleft lip and a relatively narrow cleft palate are able to breathe normally, but if placed with a foster mother they die within 24 hrs from starvation
• in contrast, unaffected siblings recovered by C-section and placed with foster mothers feed and grow normally
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digestive/alimentary system
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• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed
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cleft palate
(
J:274
)
|
• at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate
• cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed
• one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed
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• some homozygotes with cleft lip and palate swallow large amounts of air in the stomach and intestines
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growth/size/body
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• either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed
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cleft upper lip
(
J:274
)
|
• at birth, 13 of 30 homozygotes show cleft lip and palate
• 7 of these 13 homozygotes display bilateral cleft lip, 2 show left-sided cleft lip, and 2 show right-sided cleft lip; the side affected was not noted in the remaining 2 cases
|
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• 7 of 13 homozygotes display bilateral cleft lip
|
|
• 2 show left-sided cleft lip and 2 show right-sided cleft lip
|
cleft palate
(
J:274
)
|
• at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate
• cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed
• one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed
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• some homozygotes with cleft lip and palate swallow large amounts of air in the stomach and intestines
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hearing/vestibular/ear
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• homozygotes exhibit abnormal inner ears
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