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Spondyloepiphyseal dysplasia, Cantu type
An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. [from SNOMEDCT_US]
Rhizo-meso-acromelic limb shortening
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