A case of Noonan syndrome with severe blepharophimosis / 中华整形外科杂志

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, congenital heart disease, short stature, developmental delay, and bleeding diculties. This paper reports a rare Noonan syndrome child who presented chiefly to our institution with severe blepharophimosis. After DAN whole exome sequencing analysis, the patient was diagnosed with the PTPN11 gene c. 1517C> T mutation.

Tratamento cirúrgico da ptose palpebral moderada e grave: análise de resultados / Surgical treatment of moderate and severe ptosis: analysis of results

Introdução: A ptose palpebral é uma afecção comum na prática clínica na qual uma perfeita avaliação torna-se mandatória. Definimos ptose quando a margem palpebral encontra-se abaixo de 2 mm da junção córneo escleral e pode ser classificada em leve, moderada e grave. Existem inúmeras técnicas de reparo e a escolha dependerá da classificação da função do músculo levantador. Métodos: Foram analisados de forma prospectiva, no período de março de 2013 a maio de 2015, quatorze (n = 14) pacientes submetidos ao tratamento cirúrgico de ptose palpebral moderada e grave (n = 21). Inúmeros fatores foram estudados, tais como grau de ptose e função do músculo elevador da pálpebra, tipo de técnica de reparo, complicações imediatas e tardias, etc. Resultados: Quatorze pacientes foram opera-dos, totalizando 21 pálpebras, sendo que, 85% foram de etiologia adquirida e 15% congênita. Com relação ao grau de ptose, 64,3% (n = 9) foram moderadas e 35,7% (n = 5) graves. No que tange à função do músculo levantador, encontramos função boa 28,5% (n = 4), moderada 28,5% (n = 4) e pobre 43% (n = 6). Em relação às com-plicações, 2 casos de hiperemia conjutival e um caso de edema. Obtivemos um alto índice de satisfação com 85,7% (n = 12), com baixas taxas de complicações. Conclusão: A ptose palpebral é uma enfermidade comum na prática clínica e exige por parte do cirurgião um perfeito conhecimento anatômico da delicada estrutura palpebral e também de sua fisiopatologia. Uma perfeita avaliação desse paciente torna-se mandatória para o emprego do tratamento mais adequado.

Introduction: Eyelid ptosis is a common condition in clinical practice for which a complete evaluation is mandatory. Ptosis is defined when the eyelid margin is 2 mm below the corneoscleral junction and can be classified as mild, moderate, and severe. There are numerous repair techniques, and the choice will depend on the classification of the function of the levator muscle. Methods: We evaluated prospectively, from March 2013 to May 2015, 14 patients who underwent surgical treatment of moderate and severe ptosis (n = 21). Several factors were studied, such as degree of ptosis and function of the eyelid levator muscle, type of repair technique, and immediate and late complications. Results: Fourteen patients (21 eyelids) underwent operation. The etiology was acquired in 85% of the cases and congenital in 15%. With respect to the degree of ptosis, 64.3% (n = 9) of the cases were moderate and 35.7% (n = 5) were severe. With respect to the muscle function of the levator, good, moderate, and poor functions were observed in 28.5% (n = 4), 28.5% (n = 4), and 43% (n = 6) of the cases, respectively. With regard to complications, 2 cases of conjunctival hyperemia and one case of edema were observed. We obtained a high satisfaction rate of 85.7% (n = 12), with low complication rates. Conclusion: Eyelid ptosis is a common presentation in clinical practice and requires on the part of the surgeon a detailed anatomical knowledge of the delicate structure of the eyelid and its pathophysiology. A complete evaluation of these patients is mandatory for the employment of the most appropriate treatment.

Effectiveness of levator muscle resection combined with Mustarde's double Z-plasty for blepharophimosis-ptosis-epicanthus inversus syndrome / 中国修复重建外科杂志

Objective: To investigate the effectiveness of levator muscle resection combined with Mustarde's double Z-plasty to correct blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Methods: Between March 2015 and June 2017, one-stage operation of levator muscle resection combined with Mustarde's double Z-plasty were performed on 26 children with bilateral BPES. There were 16 boys and 10 girls with an average age of 7 years (range, 4-14 years). All patients marked the four typical signs of BPES. There were 7 cases accompanied with a low nasal bridge, and 20 cases with amblyopia and strabismus. The length of eye fissure was (19.5±4.5) mm, the width of eye fissure was (2.5±1.6) mm, the diameter of inner canthus was (42.1±6.5) mm, and the muscular strength of levator palpebrae superioris was (5.5±1.3) mm. Results: All the incisions healed by first intention. Twenty-three patients were followed up 2-12 months, with an average of 10 months. Among which, 2 cases were less corrected, 3 cases were over corrected, 6 cases had poor curvature of the eyelid. No eyelid internal and external pronation or keratitis occurred. Amelioration of blepharoptosis and epicanthus was achieved in the other patients, and the double eyelid fold was naturally smooth. At 7 days after operation, the length of eye fissure was (27.2±1.9) mm, the width of eye fissure was (12.5±1.3) mm, and diameter of inner canthus was (29.4±2.6) mm, which were superior to preoperative values ( t=0.127, P=0.042; t=0.341, P=0.029; t=0.258, P=0.038). There was no angular deformity caused by the width and length regressions of eye fissures. Conclusion: The levator muscle resection combined with Mustarde's double Z-plasty can effectively correct BPES and obtain good effectiveness.

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis‑ptosis‑epicanthus inversus syndrome: A surgical challenge.

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. We report a case of a 1‑year‑old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B‑scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.

Bilateral Extradural Hematoma: A Case Report.

The occurrence of bilateral extradural hematomas is an uncommon consequence of cranio-cerebral trauma. In the literature bilateral, extradural hematomas have rarely been reported. This article is about a case of 45-year-old female who was admitted in our hospital with a history of road traffi c accident. On admission, she was conscious but irritable having Glasgow coma scale 14/15. In stable condition, she was found to have visual agnosia for left eye. Her computed tomography scan showed a bilateral symmetrical site with asymmetrical dimensions. Patient underwent left occipito-posterio-parietal craniotomy with complete removal of extradural hematoma was done. Right occipital extradural hematoma was not removed.

A case of blepharophimosis due to facial edema caused by malignancy-related superior vena cava syndrome, effectively treated with double dose of Goreisan,a traditional Japanese (Kampo) prescription

Introduction: Double dose of Goreisan was effective in a case of blepharophimosis due to facial edema caused by malignancy-related superior vena cava syndrome. Case: A 60-year old male patient diagnosed with squamous cell carcinoma of the tongue underwent brachytherapy, surgery, and several types of chemotherapy before cervical lymph node metastases developed. Cyberknife therapy was performed to reduce the volume of lymph node metastases, only to develop abscess and cause malignancy-related superior vena cava syndrome, leading to facial edema accompanied by blepharophimosis. Intravenous furosemide was not effective, so double dose of Goreisan, a traditional Chinese prescription was applied and the edema and blepharophimosis subsided immediately, thus enhanced the patient’s quality of life. Conclusion: Goreisan can be an effective option for cases of malignancy-related superior vena cava syndrome refractory to chemotherapy and/or radiotherapy.

Michels syndrome: The first case report from India and review of literature.

Pediatric Ophthalmology and Strabismus Sevices, Jasti V Ramanamma Children’s Eye Care Center, L. V. Prasad Eye Institute, 1Rainbow Children’s Hospital, Hyderabad, Andhra Pradesh, India A 2‑year 7‑month‑old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft palate and craniosynostosis. This constellation of features is suggestive of Michels syndrome. At the time of writing this report, there were only ten reported cases worldwide and to the best of our knowledge, there have been no published reports from India.

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld–Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged‑helix/ forked transcription factors (FOX) involved in a variety of developmental processes.

An unusual case of ptosis.

Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Here I am presenting a case of a father & son with blepahrophimosis which could be a part of an uncommon condition called BPES (Blepharophimosis, Ptosis, Epicanthus Inversus, Telecanthus).

Single stage surgery for Blepharophimosis syndrome.

Purpose: The purpose of this study was to report the functional and cosmetic outcome of single stage surgical procedure for correction of the classic components of Blepharophimosis syndrome. Materials and Methods: We report a retrospective case file review of 11 patients with Blepharophimosis syndrome operated between July 2004 and April 2008. Each patient had undergone the correction of epicanthus inversus, telecanthus, palpebral phimosis, and bilateral ptosis as a single-stage surgical procedure. Patients were examined and photographed before and after surgery. The mean follow-up was 3 years (range 2-6 years). Results: A total of 11 patients (8 males, 3 females) with a mean age of 9 years (range 6--22 years) were reviewed. The surgical outcome was assessed both functionally and cosmetically. The mean preoperative visual acuity was 0.729 ± 0.316 SD and the mean postoperative visual acuity was 0.856 ± 0.277 SD (P <0.0428). There was a statistically significant decrease of astigmatism following ptosis correction (P<0.05), improvement of telecanthus (P<0.0001) in terms of IICD (inner intercanthal distance), and HPFL (horizontal palpebral fissure length) (P=0.019) along with improvement of the superior visual field. The mean preoperative and postoperative IICD was 3±0.33 SD and 2.418 ± 0.189 SD, respectively. There was also a significant postoperative improvement of ptosis (P< 0.01), as measured by IPFH (vertical interpalpebral fissure height). All the patients had a stable functional and cosmetic result after a mean follow-up period of 3 years. Conclusion: Single-stage surgical correction of the classic anomalies of Blepharophimosis syndrome provides stable and successful long-term results.

Epicanthoplasty Using Y-V Advancement Flap Method

PURPOSE: The epicanthal fold is a unique finding in the medial canthal area of many Asians. Various methods have been developed to eliminate this fold. However, excessive and prominent scarring in the medial canthal and nasal area and recurrence restricted application of epicanthoplasty. The authors performed a epicanthoplasty using Y-V advancement flap method in order to obliterate the epicanthal fold without making incisions in the nasal area and as a result, to avoid postoperative scarring. METHODS: Sixty one patients underwent epicanthal fold correction using Y-V advancement flap method from July 1999 to February 2005. There were 4 males and 57 females with ages ranging from 9 to 60 years. The epicanthoplasty was performed combined with double eyelid operation, ptosis correction, augmentation rhinoplasty, nasal alar reduction, and nasal tip-plasty. RESULTS: There were few complications in our studies, and most of the patients were satisfied with the results. CONCLUSION: Remarkable advantages of our Y-V advancement flap epicanthoplasty are as follows: 1) minimal postoperative scarring in the medial canthal area, 2) application of modified double eyelid operation, 3) wider opening of the medial palpebral fissure, 4) the correction of entropion or epiblepharon, 5) no recurrence.

A Case of Freeman-Sheldon Syndrome

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.

Mutational Analysis of FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) Patients

PURPOSE: The purpose of this paper is to identify the forkhead transcription factor gene (FOXL2) mutations in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: We have analyzed the mutations of FOXL2 gene in genomic DNAs extracted from 16 BPES patients and their families by PCR, PCR-SSCP, and sequencing. RESULTS: No deletion in exon 1 to 3 of the FOXL2 gene was observed by PCR. The PCR products were subjected to SSCP analysis and 9 patients showed SSCP shifts. The PCR products showing SSCP shifts were subcloned into plasmid vectors and sequenced to confirm the FOXL2 mutation. In total, 7 mutations (1 nonsense mutation, 1 deletion, and 5 duplications) in exon 2 were identified. CONCLUSIONS: The FOXL2 gene mutations were identified in the Korean BPES patients. Some of the mutations were previously reported and some were new mutations. This study will contribute to the molecular analysis and clinical counseling of BPES patients.

Mutation analysis of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome type Ⅰ / 解放军医学杂志

Objective To identify the genetic mutation of the gene FOXL2 in a big Chinese family with 4 generations,8 patients and 11 health members which have blepharophimosis-ptosis-epicanthus-inversus syndrome(BPES) type Ⅰassociated with ovarian dysfunction,and demonstrate the correlation between clinical phenotype and genotype.Methods The peripheral blood samples,with 5ml EDTA as decoagulant,from 8 patients and 11 health people in a big Chinese family affected with BPES typeⅠwere collected.The genomic DNA from peripheral blood leukocytes was extracted.7 pairs of primers were designed by the Oligo6 according to the sequence of the FOXL2 gene(GenBank ID AF301906).The exons and the putative core promoter of the FOXL2 gene were amplified using polymerase chain reaction(PCR),and mutation was analyzed by sequencing DNA fragments.Results A novel nonsense mutation at nucleotides in the FOXL2 gene was found in the eight affected patients of the big Chinese family with BPES typeⅠ.No mutation was found in any of the health members in the big Chinese family.Conclusion This is the first reported mutation of the FOXL2 gene in a big Chinese family with BPES typeⅠ.This nonsense mutation in the FOXL2 gene may be an important pathogenesis for the BPES typeⅠin this big Chinese family.It is the first time that a novel nonsense mutation in the FOXL2 gene has ever been found to demonstrate a close correlation between genotype and BPES typeⅠ.

Surgical treatment of congenital blepharophimosis syndrome and long-term follow-up / 中华医学美学美容杂志

ObjectiveTo summarize long-term effects of different op eration methods to cure congenital blepharophimosis syndrome in the past twenty years. MethodsIn the past twenty years, according to the clini cal features of 74 cases of congenital blepharophimosis syndrome,we adopted one -stage or two-stage technique to do the medial and lateral canthoplasty and/or to correct blepharoptosis. 24 patients accepted post-operative follow-up as l ong as 9 years. ResultsGenerally, Mustrarde technique was adop ted to correct inverse epicanthus for 54 cases, but for 20 patients with mild ep icanthus we adopted other methods. When enlarging the medial canthus, we selecti vely shortened the medial canthal ligament for 36 patients. When transverse tens ion on the upper eyelids was not increased, 33 cases selected one-stage techniq ue to correct this syndrome and obtained the same effects as two-stage techniqu e did for the other 41 cases. Other combined deformations of the patients should be treated in adolescence according to the patients' requirements. ConclusionBy adopting one-stage or two-stage technique to perform the medial and lateral canthoplasty and/or to correct blepharophimosis for con genital blepharophimosis syndrome can reach the satisfactory results if a correc t indication is selected.

Repair of Telecanthus with Titanium Miniplate in Blepharophimosis Syndrome

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.

Surgical Correction of the Blepharophimosis Syndorome

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.

Sindrome de la blefarofimosis familiar: estudio de dos familias colombianas y dos casos esporadicos / Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases

El sindrome denominado blefarofimosis familiar comprende varias anomalias asociadas entre las cuales se destacan: blefarofimosis, blefaroptosis, epicanto inverso y telecanto. Se hereda en forma autosomica dominante con una penetrancia completa. Se han informado en la literatura aproximadamente 180 casos, a los cuales se adicionan 23 detectados en las 2 familias colombianos que estamos reportando a traves de 3 y 4 generaciones (familias A y B respectivamente) y dos esporadicos. Se discuten aspectos clinicos, embriologicos y geneticos relacionados con el sindrome

The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus. It is inherited as an autosomal dominant defect with essentially 100% penetrance. To the nearly 180 previously reported cases our report adds another 25 occurring in two colombian families through 3 and 4 generations (23 cases) and in 2 sporadic cases. Some related clinical, embryological and genetic aspects of this syndrome are discussed