Abstract |
Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary skeletal abnormalities mimicking a metaphyseal chondrodysplasia. To date all reported cases have been sporadic. We describe a 26-year-old Mexican woman, a product of consanguineous parents with clinical characteristics of SS. Our patient, also showed skeletal anomalies not previously reported that seems to be a coincidental finding.
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Authors | C A Venegas-Vega, M R Rivera-Vega, S Cuevas-Covarrubias, J Orozco, S Kofman-Alfaro |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 149A
Issue 11
Pg. 2448-51
(Nov 2009)
ISSN: 1552-4833 [Electronic] United States |
PMID | 19839037
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2009 Wiley-Liss, Inc. |
Topics |
- Abnormalities, Multiple
(pathology)
- Adolescent
- Adult
- Alopecia
(complications)
- Bone and Bones
(abnormalities, diagnostic imaging)
- Child
- Child, Preschool
- Consanguinity
- Facies
- Female
- Humans
- Male
- Parents
- Pedigree
- Radiography
- Syndrome
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