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Number of items in this site.
Cases:225
Images:1755
Cases:225
Images:1755
■Detailed data
| Sex | male |
|---|---|
| Age | 30-34 |
| Misc | 1995-1999 |
| Chief Complaint | Gait disturbance, neuropsychiatric disorder, developmentral disability |
| Past history | Stutter starting from the age of 7-8, movement disorders and systemic progress then, non-writing, and inability to walk from the age of 30. |
| Present history | My parents married cousin, (145cm, 72cm sitting height, 33.5kg body weight) short height. Movement disorder: inability to walk, upper limb disabilities, non-vocalization, Bone change:curvature side and lower limb joint flexion contracture kyphosis, Ray findings X:head (bone thickening), chest(All changes to the rib-shaped bottom), Spine (kyphosis cervical spine, thoracic spine curvature mild side, flattened vertebral body), Other:No abnormal facial appearance, no hepatosplenomegaly, corneal opacity there, no cherry red spot. |
| Laboratory findings | Blood examination・Biochemical examination:not pariticular lysozyme enzyme activity:β-D-galactosidase activity 、Urine mucopolysaccharide :normal |
