2009
DOI: 10.1002/ajmg.a.32751
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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 re… Show more

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Cited by 9 publications
(24 citation statements)
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“…Although the etiology remains unidentified, most authors believe that Satoyoshi syndrome may have an autoimmune basis. Laboratory findings often show presence of circulating antinuclear antibodies in many cases . Hypergammaglobulinemia was described in one patient .…”
Section: Pathogenesismentioning
confidence: 95%
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“…Although the etiology remains unidentified, most authors believe that Satoyoshi syndrome may have an autoimmune basis. Laboratory findings often show presence of circulating antinuclear antibodies in many cases . Hypergammaglobulinemia was described in one patient .…”
Section: Pathogenesismentioning
confidence: 95%
“…Family history is negative in patients with Satoyoshi syndrome, which may indirectly indicate that there is no significant genetic basis for the disorder. There was only one conference communication of Satoyoshi syndrome in two sisters and one case of Satoyoshi syndrome in a child of consanguineous parents …”
Section: Pathogenesismentioning
confidence: 99%
See 1 more Smart Citation
“…Progressive alopecia, diarrhea, and intermittent painful muscle spasms throughout the body are the three cardinal symptoms of this disease (18). Other clinical findings include secondary skeletal abnormalities and endocrinopathy (1).…”
Section: Discussionmentioning
confidence: 99%
“…Other clinical findings include secondary skeletal abnormalities and endocrinopathy (1). The typical age of onset is before 15 years of age (18). Muscle spasms are the initial symptom in nearly all patients with Satoyoshi syndrome (15) and usually begin between 4 and 19 years of age (1).…”
Section: Discussionmentioning
confidence: 99%