Signs / Symptoms (34)
Craniofacial |
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Bilateral posterior subcapsular cataracts |
Depressed nasal bridge |
Frontal bossing |
Hypoplasia of face |
Macrocephaly, relative |
Small nose |
Upturned nose |
General |
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A subgroup of patients with sponastrime dysplasia have severe mental retardation |
Name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) |
Growth |
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Short stature |
Short-limb dwarfism |
Hematologic |
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Hypogammaglobulinemia |
Ocular |
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Hypertelorism |
Oral |
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Dental abnormalities |
Performance |
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Mental retardation |
Respiratory |
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Laryngotracheomalacia |
Skeletal |
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Biconcave vertebral bodies (later childhood) |
Coxa vara |
Decreasing lumbar vertebrae interpediculate distance |
Delayed bone age |
Delayed carpal bone ossification |
Flattened capital femoral epiphyses |
Hypoplastic epiphyses |
Irregular metaphyses |
Kyphoscoliosis |
Limited elbow extension |
Lumbar lordosis, increased |
Metaphyseal striations |
Mild mesomelia |
Osteopenia |
Platyspondyly |
Relative increase in anterior vertebral body height |
Thoracic kyphosis |
Thorax |
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Subglottic stenosis |