craniofacial
• male homozygotes have greater skull height than controls, but female homozygotes have a statistically insignificant decrease in skull height
• the skull length to nose length ratio is decreased in females
• the skull height to skull length ratio is increased in males
• the skull length to skull width ratio is decreased in both males and females
• the skull height to skull width ratio is increased in males
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• slight but significant decrease in the skull length to width ratio
|
• males and females have shorter skull lengths than do controls
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• slightly smaller skull length in both males and females
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• shortened lower jaw length is statistically significant in females, but not statistically significant in males
(J:123049)
|
|
|
(J:223062)
|
• shortened upper jaw length is statistically significant in males, but not statistically significant in females
|
• females have shorter nose lengths than controls, but the shortened nose lenghts of male homozygotes was not found statistically significant
|
|
• the slightly shorter snout reaches statistical significance in females
(J:123049)
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• both ears are smaller than normal and have round ear pinnae with ridges around the perimeter
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short ears
(
J:223062
)
• both females and males have ear lobes that are approximately half normal length
|
skeleton
N |
• no abnormality was found in spine length, ratios of tail length to back length, femur length to back length or spine length to back length
|
• male homozygotes have greater skull height than controls, but female homozygotes have a statistically insignificant decrease in skull height
• the skull length to nose length ratio is decreased in females
• the skull height to skull length ratio is increased in males
• the skull length to skull width ratio is decreased in both males and females
• the skull height to skull width ratio is increased in males
|
• slight but significant decrease in the skull length to width ratio
|
• males and females have shorter skull lengths than do controls
|
• slightly smaller skull length in both males and females
|
• shortened lower jaw length is statistically significant in females, but not statistically significant in males
(J:123049)
|
|
|
(J:223062)
|
• shortened upper jaw length is statistically significant in males, but not statistically significant in females
|
• statistically slightly lower in both females and males
|
• whole body bone mineral density is decreased in both females and males
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hearing/vestibular/ear
N |
• ABR threshold analysis at three months of age indicates normal hearing
|
• both ears are smaller than normal and have round ear pinnae with ridges around the perimeter
|
short ears
(
J:223062
)
• both females and males have ear lobes that are approximately half normal length
|
respiratory system
• females have shorter nose lengths than controls, but the shortened nose lenghts of male homozygotes was not found statistically significant
|
growth/size/body
• females have shorter nose lengths than controls, but the shortened nose lenghts of male homozygotes was not found statistically significant
|
|
• the slightly shorter snout reaches statistical significance in females
(J:123049)
|
• both ears are smaller than normal and have round ear pinnae with ridges around the perimeter
|
short ears
(
J:223062
)
• both females and males have ear lobes that are approximately half normal length
|