Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype. (November 2016)

• Record Type: Journal Article
• Authors: Kaba, Sultan; DoğAn, Murat; Bulan, Keziban; Demir, Nihat; Üner, Abdurrahman; Deniz Bulut, Mehmet; Kocaman, Selami
• Is Part Of: Cleft palate-craniofacial journal. Volume 53:Number 6(2016)
• Page Start: 732
• Page End: 735
• Publication Date: 2016-11
• Subjects: BPES -- cardiomyopathy -- cleft palate -- novel associations -- ovarian failure; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1597/15-032
• Languages: English
• ISSNs: 1055-6656

Abstract

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.