immune system
• 20 of 25 heterozygotes exhibit lymph reflux from the cisterna chyli into dilated lymphatic channels within the hepatic hilum, mesentery, mesenteric lymph nodes and the intestinal wall through incompetent interlymphangion valves
|
• 23 of 25 heterozygotes exhibit a general increase in the number of lymph nodes throughout the body
|
• 23 of 25 heterozygotes exhibit a general increase in the size of lymph nodes throughout the body
|
• 2 of 25 heterozygotes display a hyperplastic thoracic duct with several tortuous bifurcations
|
• heteroygotes show multiple dilated capsular lymphatics and significantly expanded lymph node sinuses (lymphangiectasia), occupying up to 50% of nodal volume
|
• 22 of 25 heterozygotes display a variable but significant increase in the number and caliber of peripheral and central deep lymphatic collectors and trunks and in the superficial dermal lymphatics
|
vision/eye
• 3 of 25 heterozygotes display ocular dysplasia
|
• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit
|
• 2 of 25 heterozygotes display focal corneal abrasions
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• 100% of heterozygotes (24/24) display an extra internal row of eyelashes arising from the sebaceous meibomian glands
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• 2 of 25 heterozygotes display ptosis of the eye
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eye opacity
(
J:83436
)
• 5 of 36 heterozygotes exhibit cloudy eyes
|
homeostasis/metabolism
• 2 of 25 heterozygotes exhibit periorbital swelling
|
• 2 of 25 heterozygotes exhibit hindlimb swelling
|
lymphedema
(
J:83436
)
• 2 of 25 heterozygotes exhibit hindlimb lymphedema; however, no effusions (chylous or non-chylous) or peripheral edema are observed
|
cardiovascular system
• 20 of 25 heterozygotes exhibit lymph reflux from the cisterna chyli into dilated lymphatic channels within the hepatic hilum, mesentery, mesenteric lymph nodes and the intestinal wall through incompetent interlymphangion valves
|
adipose tissue
• heterozygotes exhibit an increased amount of brown fat deposits
|
craniofacial
• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit
|
• 2 of 25 heterozygotes exhibit periorbital swelling
|
skeleton
• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit
|
growth/size/body
• 2 of 25 heterozygotes exhibit periorbital swelling
|