Results 161 to 170 of about 2,495 (204)
Some of the next articles are maybe not open access.
One-Stage Repair of Blepharophimosis
Plastic and Reconstructive Surgery, 1991Congenital blepharophimosis is a congenital anomaly characterized by abnormalities in the area of the eyes, including bilateral ptosis, shortening of the horizontal fissure of the lid, expansion of the intercanthal distance, and epicanthus inversus.
T, Nakajima +3 more
openaire +2 more sources
Ptosis with blepharophimosis and epicanthus inversus
British Journal of Plastic Surgery, 1986The rare syndrome which includes ptosis, blepharophimosis and epicanthus inversus is recorded in one family through five generations. The genetic significance of the syndrome is emphasised and the literature on the surgical management of the condition reviewed.
D, Elliot, A F, Wallace
openaire +2 more sources
Blepharophimosis syndrome is linked to chromosome 3q
Human Molecular Genetics, 1995Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal
K W, Small +9 more
openaire +2 more sources
A case of blepharophimosis: Freeman Sheldon syndrome
Ophthalmic Genetics, 2021Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.The authors describe the ...
Scott Bowman +5 more
openaire +2 more sources
One-Stage Repair of Blepharophimosis
Plastic and Reconstructive Surgery, 1994Blepharophimosis is a congenital malformation involving the orbital region. It is associated with ptosis of the upper eyelids, epicanthal folds, telecanthus, and flattened and widened nasal bridge. We have surgically treated five cases of blepharophimosis by a procedure in which nasal bone graft, medial canthoplasty, and fascial suspension are ...
Karacaoglan, N +3 more
openaire +4 more sources
Blepharophimosis Syndrome With Absent Tear Production
Ophthalmic Plastic & Reconstructive Surgery, 2015The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite
Jacqueline K, Ng +3 more
openaire +2 more sources
Acquired Blepharophimosis in a Patient with Juvenile Blepharospasm
Ophthalmic Plastic & Reconstructive Surgery, 1986At 4 years of age, a young girl with Schwartz-Jampel syndrome developed blepharospasm with resultant blepharophimosis. Her eyelids and facial features had been normal until that time. While these rare ocular abnormalities may be present together in patients with this syndrome, the relationship between them has not been explained.
J R, Patrinely, R L, Anderson
openaire +2 more sources
Correction of Blepharophimosis with Silicone Implant Suspensor
Plastic and Reconstructive Surgery, 2006Blepharophimosis is a rare autosomal-dominant syndrome involving the periorbital region. It is characterized mainly by eyelid ptosis, palpebral phimosis, telecanthus, and epicanthus inversus.Ten patients ranging in age from 2 to 22 years who presented with blepharophimosis were retrospectively studied over the past 14 years; they had an average follow ...
Henri, Friedhofer +3 more
openaire +2 more sources
Vertical transmission of the Ohdo blepharophimosis syndrome
American Journal of Medical Genetics, 1998Ohdo blepharophimosis syndrome (OBS) is a multiple congenital anomalies-mental retardation syndrome composed of blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation. Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two affected sisters
A A, Mhanni, A J, Dawson, A E, Chudley
openaire +2 more sources