craniofacial
• all homozygotes exhibit upper and lower incisor teeth with markedly reduced breadth and depth, resulting in a needle-like appearance
• upper incisors appear to be more severely affected than lower incisors
• both pairs of incisors are prone to excessive wear and breakage
• by 20 weeks of age, both pairs of incisors are worn down to the gum line in most homozygotes
|
• mandibular incisors are slightly smaller than normal
|
• maxillary incisors are much smaller than normal
|
• microCT scans suggest that cusp development in molar teeth is reduced or that cusps are effaced by accelerated wear
|
• the dentin layer of maxillary incisors is narrow and irregular and does not fully encircle the dental pulp
• the irregular dentin layer in maxillary incisors is open posteriorly at all stages of tooth maturation and covered anteriorly by a crescent-shaped enamel cap
• similar defects in dentin (malformed and incomplete surrounding of pulp) are seen in mandibular incisors
|
• similar defects in enamel (small narrow caps) are seen in maxillary and mandibular incisors
|
• both pairs of incisors are prone to excessive wear
• by 20 weeks of age, both pairs of incisors are worn down to the gum line in most homozygotes
|
• both pairs of incisors are prone to breakage
|
• microCT scans show that the length and diameter of the mandible is decreased in proportion to the reduced incisor size
|
growth/size/body
• all homozygotes exhibit upper and lower incisor teeth with markedly reduced breadth and depth, resulting in a needle-like appearance
• upper incisors appear to be more severely affected than lower incisors
• both pairs of incisors are prone to excessive wear and breakage
• by 20 weeks of age, both pairs of incisors are worn down to the gum line in most homozygotes
|
• mandibular incisors are slightly smaller than normal
|
• maxillary incisors are much smaller than normal
|
• microCT scans suggest that cusp development in molar teeth is reduced or that cusps are effaced by accelerated wear
|
• the dentin layer of maxillary incisors is narrow and irregular and does not fully encircle the dental pulp
• the irregular dentin layer in maxillary incisors is open posteriorly at all stages of tooth maturation and covered anteriorly by a crescent-shaped enamel cap
• similar defects in dentin (malformed and incomplete surrounding of pulp) are seen in mandibular incisors
|
• similar defects in enamel (small narrow caps) are seen in maxillary and mandibular incisors
|
• both pairs of incisors are prone to excessive wear
• by 20 weeks of age, both pairs of incisors are worn down to the gum line in most homozygotes
|
• both pairs of incisors are prone to breakage
|
skeleton
• all homozygotes exhibit upper and lower incisor teeth with markedly reduced breadth and depth, resulting in a needle-like appearance
• upper incisors appear to be more severely affected than lower incisors
• both pairs of incisors are prone to excessive wear and breakage
• by 20 weeks of age, both pairs of incisors are worn down to the gum line in most homozygotes
|
• mandibular incisors are slightly smaller than normal
|
• maxillary incisors are much smaller than normal
|
• microCT scans suggest that cusp development in molar teeth is reduced or that cusps are effaced by accelerated wear
|
• the dentin layer of maxillary incisors is narrow and irregular and does not fully encircle the dental pulp
• the irregular dentin layer in maxillary incisors is open posteriorly at all stages of tooth maturation and covered anteriorly by a crescent-shaped enamel cap
• similar defects in dentin (malformed and incomplete surrounding of pulp) are seen in mandibular incisors
|
• similar defects in enamel (small narrow caps) are seen in maxillary and mandibular incisors
|
• both pairs of incisors are prone to excessive wear
• by 20 weeks of age, both pairs of incisors are worn down to the gum line in most homozygotes
|
• both pairs of incisors are prone to breakage
|
• microCT scans show that the length and diameter of the mandible is decreased in proportion to the reduced incisor size
|
• homozygotes display slightly increased DEXA bone mineral density values for body (4%), spine (13%), and femur (12%), suggesting a mild effect on bone structure
• however, no changes are noted in microCT scans of LV5 vertebral body trabecular bone or midshaft femur cortical bone
• histopathology revealed no skeletal abnormalities
|
behavior/neurological
N |
• homozygotes show no obvious behavioral defects
|
immune system
N |
• homozygotes show no obvious immunologic defects
|
homeostasis/metabolism
N |
• homozygotes show no obvious metabolic defects
|
vision/eye
N |
• homozygotes show no obvious ophthalmic defects
|