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Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity

Authors


  • How to Cite this Article: Venegas-Vega CA, Rivera-Vega MR, Cuevas-Covarrubias S, Orozco J, Kofman-Alfaro S. 2009. Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity. Am J Med Genet Part A 149A:2448–2451.

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. © 2009 Wiley-Liss, Inc.

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