Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity.
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.
Venegas-Vega
C A
CA
Department of Human Genetics, Facultad de Medicina, Hospital General de México, UNAM, México City, Mexico. cavene@yahoo.com
Rivera-Vega
M R
MR
Cuevas-Covarrubias
S
S
Orozco
J
J
Kofman-Alfaro
S
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000150:complications; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents; D010375:Pedigree; D011859:Radiography; D013577:Syndrome