Blepharophimosis, Ptosis and Epicanthus Inversus (BPES) is an autosomal dominant syndrome characterized by dysplasia of the eyelids, small palpebral fissures, epicanthus inversus, low nasal bridge, and ptosis of the eyelids. This syndrome is caused by a mutations in the FOXL2 gene, located on 3q23. In BPES type I there is a premature ovarian failure while in BPES type II eyelids malformation occurs as an isolated defect.
Newborn with hypertelorism, small palpebral fissures and eyelid ptosis
Concolino D.;
2006-01-01
Abstract
Blepharophimosis, Ptosis and Epicanthus Inversus (BPES) is an autosomal dominant syndrome characterized by dysplasia of the eyelids, small palpebral fissures, epicanthus inversus, low nasal bridge, and ptosis of the eyelids. This syndrome is caused by a mutations in the FOXL2 gene, located on 3q23. In BPES type I there is a premature ovarian failure while in BPES type II eyelids malformation occurs as an isolated defect.File in questo prodotto:
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