We report a family with a disorder characterized by limbs and truncal
undulating painful muscle spasms, short stature, fine and sparse hair
in the scalp, absence of body hair, low implanted ears, big nose, pitc
hed voice, enlarged heart ventricles and increased fasting glucose lev
els. Symptoms began in childhood and did not progress after the third
decade of life. This disorder represents a new clinical phenotype amon
g the several forms of dwarfism associated with neurological manifesta
tions already described in the literature.