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Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity.

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.
AuthorsC A Venegas-Vega, M R Rivera-Vega, S Cuevas-Covarrubias, J Orozco, S Kofman-Alfaro
JournalAmerican 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
PMID19839037 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 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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