Syndrome of myopathy, short stature, seizures, retinitis pigmentosa, and cleft lip.
A five-year-old boy is presented with an undifferentiated myopathy, retinitis pigmentosa, incomplete cleft lip, short stature (less than third percentile), mild delay in development, and seizures. To date, no etiology or pathogenetic mechanism has been discovered to account for these, and no similar cases have been encountered in the literature.
D001827:Body Height; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis*; D004827:Epilepsy / Q000175:diagnosis*; D006130:Growth Disorders / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D013577:Syndrome