| umls-concept:C0432283 | skos:definition | JABL: A rare form of bone dysplasia characterized by distinctive bone lesions, disproportionate dwarfism, and severe craniofacial defect. The affected infants show failure to thrive, craniosynostosis, respiratory problems, rhizomelic dwarfism, multiple metaphyseal defects, anterior beaking of the vertebrae, and other abnormalities. Early psychomotor retardation and feeding difficulty are followed by normal intelligence and nutrition. The term "osteoglophonic" is derived from Greek meaning 'hollowed out' denoting the radiographic appearance of the metaphyses. | lld:umls |
