1.The Effects of Transnasal Wiring on the Congenital Telecanthus associated with Blepharophimosis, Blepharoptosis and Epicanthus Inversus.
Journal of the Korean Ophthalmological Society 1986;27(6):1077-1081
Telecanthus is abnormal widening between the medial canthi. There are two kinds of telecanthus which are congenital and acquired. Many authors have described and reported about the surgical procedures and their results of telecanthus. We have had 5 cases of surgical experiences for correction of congenital telecanthus by means of transnasal wiring from 1983 to 1986. After surgery, we obtained good cosmetic results without significant complications. The mean postoperative decrease of intermedial canthal distance at 3 months after surgery was 7.2mm (from 38.2mm to 31mm). Transnasal wiring for telecanthus was combined with Y-V plasty for epicanthus inversus after lateral canthoplasty for blepharophimosis. Blepharoptosis was corrected by frontalis sling. More details about surgical procedures and results are described.
Blepharophimosis*
;
Blepharoptosis*
2.Consenital blepharophimosis with family history.
Hyeon Ok KIM ; Kwang Ho LEE ; Sung Moon CHUNG ; Seong Jong YOU ; Sung Soo KIM
Journal of the Korean Society of Plastic and Reconstructive Surgeons 1993;20(5):1058-1063
No abstract available.
Blepharophimosis*
;
Humans
3.Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type 1 in an Indian Family
Abhinav Kumar Gupta ; Deepak Chand Gupta ; Saqib Ahmad Khan ; Syed Mohd Razi
Journal of the ASEAN Federation of Endocrine Societies 2017;32(1):68-71
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.
Blepharophimosis, Ptosis, and Epicanthus Inversus
;
Blepharophimosis
4.A Case of Congenital Ptosis.
Moon Cheon HAH ; Seung Ho HONG
Journal of the Korean Ophthalmological Society 1973;14(1):31-34
A case of bilateral congenital ptosis with strong heredity. studied and treated at eye clinic in S.R.C.H. is reported. The ptosis was associated with external ophthalmoplegia and blepharophimosis in both eyes, and right esotropia. And typically eyeballs turned media-inferiorly when lids forcibly closed (inverted Bell's phenomenon).
Blepharophimosis
;
Esotropia
;
Heredity
;
Ophthalmoplegia
5.Repair of Telecanthus with Titanium Miniplate in Blepharophimosis Syndrome.
Sae Heun BAEK ; Keun Soo KIM ; Byung Woo PARK ; Tae Soo LEE
Journal of the Korean Ophthalmological Society 2000;41(5):1224-1228
Telecanthus in congenital blepharophimosis has traditionally been repaired with conventional methods such as medial canthal tendon tucking and transnasal wiring.We report 2 cases of patients with telecanthus who underwent repair with titanium miniplate. After the anterior limb of medial canthal tendon was dissected, its insertion site was drilled and a titanium miniplate was fixed with screws.The dissected medial canthal tendon was fixed with 4-0 mersilene to a miniplate hole.After the surgery, we obtained a mean decrease of 11 mmin intermedial canthal distance and no complications except scar in incision site. We believe that this procedure has advantages such as short operation time, precise placement of the medial canthal tendon.For these reasons, it seems to be an excellent alternative to transnasal wiring, but considers this operation because of scar in incision site.
Blepharophimosis*
;
Cicatrix
;
Extremities
;
Humans
;
Tendons
;
Titanium*
6.A Case of Freeman-Sheldon Syndrome.
Hyung Kyu PARK ; Yeo Joo BYUN ; Jin Sook YOON ; Sang Yeul LEE
Journal of the Korean Ophthalmological Society 2007;48(6):845-848
PURPOSE: To report a patient with Freeman-Sheldon syndrome with blepharophimosis. METHODS: A 4-year-old girl with congenital facial abnormalities consistent with Freeman-Sheldon syndrome presented with complaints of blepharophimosis. The characteristic features of microstomia, down-slanting palpebral fissure, blepharoptosis, and telecanthus were also found. Y-V epicanthoplasty and levator aponeurosis resection were performed. RESULTS: Surgical intervention to correct ptosis and telecanthus led to initially fair cosmetic results, but one month later an unexpected decrease in interpalpebral fissure height was noted. CONCLUSIONS: Freeman-Sheldon syndrome with blepharophimosis is very rare. It was necessary to correct blepharoptosis, telecanthus, and blepharophimosis in the oculoplastic service in this case.
Blepharophimosis
;
Blepharoptosis
;
Child, Preschool
;
Female
;
Humans
;
Microstomia
7.The Effect of The Levator Resection on Congenital Blephareptesis.
Yoon Sang JUNG ; Byung Kook PARK
Journal of the Korean Ophthalmological Society 1982;23(3):491-497
Authors studied 73 patients(91 eyes) of the congenital blepharoptosis who were received the levator resection at Busan National University Hospital during recent 4 years and could do follow up studies for at least 6 months(average 9.7 months). Results obtained as follows; 1. Success rate of the levator resection was 67 percents. 2. Causes of the levator resection were poor levator function of 2 to 4 mm or combined anomalies, such as superior rectus weakness, epicanthus, and blepharophimosis. 3. Average amount of the levator resection per 1 mm difference of levator function was 1. 85 mm. 4. It was concluded that the primary surgical indication for the congenital blepbaroptosis of simple type with the levator function of 5 mm or more was resection of the levator muscle.
Blepharophimosis
;
Blepharoptosis
;
Busan
;
Follow-Up Studies
8.Surgical Correction of the Blepharophimosis Syndorome.
Journal of the Korean Ophthalmological Society 1993;34(10):936-942
During the past decade the syndorome of blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus(blepharophimosis syndrome)have become recognized as a distinct tetrad based upon clinical and hereditary characteristics. Early surgery is recommended to minimize being teased at school altough the final results surgical correction may be better in older children and in adults. We treated nine patients with epicanthus by Mustarde's quadrilateral flap or Y to V flap Medial canthal tendon is shortened by tucking for telecanthus. Blepharoptosis is corrected by frontalis suspension using preserved dura or preserved fascia lata as a sling material. We experience satisfactory results in nine patients by this technique without serious postoperative complications.
Adult
;
Blepharophimosis*
;
Blepharoptosis
;
Child
;
Fascia Lata
;
Humans
;
Postoperative Complications
;
Tendons
9.Two case of Congenital Anophthalmos.
Kyung Sup SOHN ; In Sun SHIN ; Jae Ho KIM ; Sang Min KIM ; Kyung Sub SHIN
Journal of the Korean Ophthalmological Society 1969;10(1):11-13
Authors observed clinically for congenital anophthalmos in two cases. One case was a boy, aged 6 years, having congenital anophthalmos of right eye with bifid uvula and another case was newbron baby, aged 4 days, having congenital anophthalmos and blepharophimosis of left eye and was born to undernutciented mother from chronic hepatitis.
Anophthalmos*
;
Blepharophimosis
;
Hepatitis, Chronic
;
Humans
;
Male
;
Mothers
;
Uvula
10.Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene.
Jing CHEN ; Guanglei TONG ; Yuchen WANG ; Fuling YE ; Lei SHI ; Hong LI
Chinese Journal of Medical Genetics 2022;39(12):1370-1374
OBJECTIVE:
To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness.
METHODS:
The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene.
RESULTS:
The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).
CONCLUSION
The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.
Female
;
Humans
;
Blepharophimosis/genetics*
;
Blepharoptosis
;
Genotype
;
Histone Acetyltransferases
;
Infant