FAMILIAL DWARFISM AND PAINFUL MUSCLE SPASMS

Citation
Rep. Sica et al., FAMILIAL DWARFISM AND PAINFUL MUSCLE SPASMS, Medicina, 55(2), 1995, pp. 111-116
Citations number
28
Categorie Soggetti
Medicine, General & Internal
Journal title
ISSN journal
00257680
Volume
55
Issue
2
Year of publication
1995
Pages
111 - 116
Database
ISI
SICI code
0025-7680(1995)55:2<111:FDAPMS>2.0.ZU;2-6
Abstract
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.