Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We report a case of 7-month-old female child who presented to us with watering of both eyes since birth and failure to thrive. Examination revealed peculiarities of BPES with bilateral congenital nasolacrimal duct obstruction (CNLDO) and associated findings of bilateral sensorineural hearing loss (SNHL) and cleft palate. Initially, conservative management followed by probing, cleft palate correction, and V-Y plasty was advised and ptosis correction planned at later age. There are several ocula...
Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by...
We report a 7-year-old boy with congenital bilateral perisylvian syn-drome and congenital constricti...
drome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growthof eyelashes from themeib...
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrom...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare developmental eye condition, is ...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder....
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic condition caused...
We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriag...
AbstractWe report the case of a 2month old male, 6th in order of birth of 1st cousin consanguineous ...
Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertic...
From the Hospitals for Sick Children, Great Ormond Street, London WCJN 3JH. SUMMARY Non-penetrance o...
Branchio-oto-renal syndrome (BOR), also known as Melnick-Fraser Syndrome, is an autosomal dominant g...
Comorbidities are common with craniofacial anomalies and can include auditory neuropathy spectrum di...
Congenital nasolacrimal duct obstruction (CNLDO), previously considered a benign disease, affects 20...
Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disor...
Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by...
We report a 7-year-old boy with congenital bilateral perisylvian syn-drome and congenital constricti...
drome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growthof eyelashes from themeib...
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrom...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare developmental eye condition, is ...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder....
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic condition caused...
We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriag...
AbstractWe report the case of a 2month old male, 6th in order of birth of 1st cousin consanguineous ...
Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertic...
From the Hospitals for Sick Children, Great Ormond Street, London WCJN 3JH. SUMMARY Non-penetrance o...
Branchio-oto-renal syndrome (BOR), also known as Melnick-Fraser Syndrome, is an autosomal dominant g...
Comorbidities are common with craniofacial anomalies and can include auditory neuropathy spectrum di...
Congenital nasolacrimal duct obstruction (CNLDO), previously considered a benign disease, affects 20...
Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disor...
Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by...
We report a 7-year-old boy with congenital bilateral perisylvian syn-drome and congenital constricti...
drome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growthof eyelashes from themeib...