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skos:definition |
JABL: A syndrome originally described as generalized bony changes with cranial nerve involvement, characterized mainly by osteosclerosis, platyspondyly, short stature, frequent fractures, muscle atrophy, cranial nerve compression, flattened fingernails, and poorly calcified dental enamel. Optic atrophy, hearing impairment, and mental retardation were reported in later cases.
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