ea0003p13 | Clinical Case Reports | BES2002
Varghese B
, Donnai D
, Shalet S
The index patient is a 40 year old male with BPES (Blepharophimosis, Ptosis, Epicanthus inversus Syndrome) associated with isolatedgrowth hormone deficiency. BPES is a rare genetic disease occurring either sporadically or as an autosomal dominant disorder. There are two phenotypes; in type 1, eyelid abnormalities are associated with ovarian failure and in type 2 eyelid abnormalitiesonly. The genes for both types have been mapped ...