Familial dwarfism and painful muscle spasms.
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, pitched voice, enlarged heart ventricles and increased fasting glucose levels. Symptoms began in childhood and did not progress after the third decade of life. This disorder represents a new clinical phenotype among the several forms of dwarfism associated with neurological manifestations already described in the literature.
Sica
R E
RE
División Neurología, Hospital Ramos Mejía, Buenos Aires.
Espinoza
R
R
Benavente
O
O
Sanz
O P
OP
Molina
H
H
D000328:Adult; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D008297:Male; D009119:Muscle Contraction; D010375:Pedigree; D010641:Phenotype; D013035:Spasm