64%) came with congenital Blepharophimosis
syndrome, telecanthus, cerebral palsy, mental retardation, dental malformations, bat ears, convergent squint with developmental delay and came to diagnosed as a syndrome of oculo-cerebro-dento-auricular malformations (CODAS) syndrome a rare autosomal recessive syndrome with <1/1000000 incidence.
Jampel in the Archives of Ophthalmology in an article titled "Congenital blepharophimosis
associated with a unique generalized myopathy.
Exclusion criteria included weak Bell's phenomenon (less than 50% of normal), positive phenylephrine test, jaw winking phenomenon, blepharophimosis
syndrome, systemic or myopathic disorders with secondary ptosis such as myotonic dystrophy, myasthenia gravis, chronic progressive external ophthalmoplegia, and Graves' disease, history of intra or extra ocular and eyelid surgery, sharp or blunt trauma to the eyelids, eyelid tumors and scars and patients with vertical squint.
The incidence of strabismus and refractive error in patients with blepharophimosis
, ptosis and epicanthus inversus syndrome (BPES).
They described two sisters with "mental retardation, congenital heart disease, blepharophimosis
(small eye openings), blepharoptosis (drooping eye lids), and hypoplastic teeth.
com 2,3,4,8,9 BENIGN CONGENITAL HYPOTONIA See: Spinal Muscular Atrophy BERGER DISEASE See: Kidney Disorders BETA THALASSEMIA MAJOR See: Cooley Anemia BEUREN SYNDROME See: Williams Syndrome BIOTINIDASE DEFICIENCY See: Metabolic Disorders BIRTHMARK See: Nevi, Giant Congenital BLEEDING DISORDERS See: Hemophilia BLEPHAROPHIMOSIS
, PTOSIS, EPICANTHUS INVERSUS SYNDROME (BPES) See also: Craniofacial Disorders Blepharophimosis
, Ptosis, Epicanthus Inversus Family Network c/o Lynne Schauble SE 820 Meadow Vale Dr.