Metaphyseal chondrodysplasia, Kaitila type

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Metaphyseal chondrodysplasia Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature short limbs and digits tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Metaphyseal chondrodysplasia, Kaitila type?

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