RESUMO

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.

Assuntos

Anormalidades Múltiplas/patologia , Osso e Ossos/anormalidades , Consanguinidade , Pais , Adolescente , Adulto , Alopecia/complicações , Osso e Ossos/diagnóstico por imagem , Criança , Pré-Escolar , Fácies , Feminino , Humanos , Masculino , Linhagem , Radiografia , Síndrome