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Table 1 Comparison of clinical features of all reported SRS patients

From: Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

Features Reported patients Patient II-1 Patient II-3
Cognitive impairment 15/15 + +
Seizures 8/15 + +
Myopia 2/13 + * + *
High, narrow palate 3/13 + +
Prominent lower lip 12/15 + -
Speech abnormalities 15/15 + ** + **
Diminished body bulk 15/15 + +
Kyphoscoliosis 13/15 + +
Osteoporosis 11/11 + +
Long finger/toes 12/15 + *** #
Unsteady gait 10/15 + **** + ****
Renal abnormalities 3/13 + +
Nephrocalcinosisa 0/13 + +
Frequent infections 0/13 + +
Retinal pigment changes 0/13 + +
Hypo-/Hyper-glycemia 1/13 + +
Muscle fiber abnormalities 1/13 + +
  1. #Not assessed.
  2. *Partial blindness.
  3. **No vocalizations.
  4. ***Contractures of fingers.
  5. ****Non-ambulatory.
  6. aNote: Nephrocalcinosis in these patients previously recorded in GeneReviews [20].
  7. The phenotype data used to generate this table was collected from [11-17].
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