Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype.
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 of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition.
Sultan
S
Kaba M D
Murat
M
Doğan M D
Keziban
K
Bulan M D
Nihat
N
Demir M D
Abdurrahman
A
Üner M D
Mehmet Deniz
MD
Bulut M D
Selami
S
Kocaman M D
D016569:Blepharophimosis / Q000175:diagnosis*; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007223:Infant; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis*; D014564:Urogenital Abnormalities / Q000175:diagnosis*
D004958:Estradiol; D005640:Follicle Stimulating Hormone
BPES; cardiomyopathy; cleft palate; novel associations; ovarian failure