We present here a patient with muscle fatigue and poor growth since the age of 6 y. The diagnosis of a mitochondrial disease was based on the presence of ragg e
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (BPES, OMIM # 110100) IS A RARE AUTOSOMAL DOMINANT DISORDER AFFECTING THE EYELID AND OVARIAN DEVELOPMENT. W