Results 11 to 20 of about 1,143,678 (194)
Indian Journal of Ophthalmology, 2014 Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus.
Bhavin M Shah +5 more
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Indian Journal of Ophthalmology, 2016 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus.
Vasudha Kemmanu +3 more
doaj +2 more sources
Genetics and Molecular Biology, 1998 We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs.
N.M. Kokitsu-Nakata, A. Richieri-Costa
doaj +2 more sources
Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report. [PDF]
Case Rep AnesthesiolSchwartz–Jampel syndrome (SJS) is associated with neuromuscular and structural abnormalities that can complicate perioperative and anesthetic management. The syndrome has been noted to create increased difficulty in anesthetic airway management with age.
Shreiner H +3 more
europepmc +2 more sources
Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient [PDF]
Egyptian Journal of Medical Human Genetics, 2015 We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical
Rabah M. Shawky +2 more
doaj +4 more sources
Waardenburg or Blepharophimosis ptosis epicanthus inversus syndrome? – An enigmatic riddle
Kerala Journal of OphthalmologyWaardenburg syndrome (WS) is a genetic disorder that may be discernible right at birth. The syndrome is well known to have heterogeneous expression; the range, and severity of which may vary greatly from case to case, even among the individuals of the ...
Deepsekhar Das +4 more
doaj +2 more sources
Single-stage surgery for Blepharophimosis syndrome [PDF]
Indian Journal of Ophthalmology, 2013 Kasturi Bhattacharjee +4 more
doaj +2 more sources
Whistling face (Freeman-Sheldon) syndrome in two siblings
The Turkish Journal of Pediatrics, 1994 Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small
N Bekir +3 more
doaj +2 more sources
A family affected with Blepharophimosis syndrome
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Blepharophimosis syndrome is a genetic disease characterized by a shortening of the palpebral fissure or blepharophimosis, associated to ptosis and epicanthus inversus in most cases.
Elayne Esther Santana Hernández +1 more
doaj +1 more source
Anophthalmia Plus Syndrome: A Case Report of Severe Ocular and Systemic Anomalies in a Neonate [PDF]
Case Rep MedAnophthalmia is a severe congenital ocular malformation characterized by the complete absence of one or both eyes, distinct from microphthalmia, in which the eye is significantly underdeveloped. This case report details a male infant born at 37 weeks of gestation via cesarean section because of a transverse lie and placental abruption, with low birth ...
Abushgair Z +6 more
europepmc +2 more sources