craniometaphyseal dysplasia Jackson type
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Epidemiology
rare
Pathology
- skeletal disorder
- abnormal bone formation & bone mineralization in membranous & endochondral bones
- progressive thickening of the bones can cause narrowing of cranial foramina & can lead to severe visual & neurological impairment
Genetics
- autosomal dominant
- associated with defects in ANKH gene
Clinical manifestations
- visual impairment
- neurological impairment