Article
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Nov 2016
Kaba M D Sultan, Doğan M D Murat, Bulan M D Keziban, Demir M D Nihat, Üner M D Abdurrahman, Bulut M D Mehmet Deniz, Kocaman M D Selami
Abstract excerpt
We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome. Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases...
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