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    Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
    Neuromuscul Disord 2017 May 30. Epub 2017 May 30.
    Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:
    Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Read More

    Timing of surgical correction for the treatment of unilateral congenital ptosis: Effects on cosmetic and functional results.
    Orbit 2017 Aug 16:1-6. Epub 2017 Aug 16.
    d Department of Epidemiology and Prevention , IRCCS Istituto Neurologico Mediterraneo Neuromed , Pozzilli , IS , Italy.
    The authors analyzed the cosmetic and functional results of a series of patients with unilateral congenital ptosis who underwent levator resection, to compare the outcome of surgery according to the age of intervention, and to evaluate the chance of ptosis recurrence in different age groups. Analysis of the clinical charts of 44 patients who underwent a unilateral levator muscle resection under the care of one surgeon from February 2000 to March 2012 was performed. Age at the time of surgery ranged from 2. Read More

    Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
    Am J Med Genet A 2017 Aug 4. Epub 2017 Aug 4.
    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
    Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Read More

    Left main coronary artery atresia in a child: a case report and review of the literature.
    Cardiol Young 2017 Aug 3:1-4. Epub 2017 Aug 3.
    Department of Pediatrics,Kurashiki Central Hospital,Kurashiki,Japan.
    Congenital atresia of the left coronary artery is a very rare condition. We report a case of a 13-year-old boy who was followed-up at our outpatient clinic from 6 months of age because of heart murmur. He had no symptoms for more than 10 years, and his left ventricular contraction was normal. Read More

    A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.
    BMC Genet 2017 Aug 2;18(1):74. Epub 2017 Aug 2.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.
    Background: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Read More

    Treatment of Children With Congenital Severe Blepharoptosis by Frontalis Aponeurosis Flap Advancement Under General Anesthesia in a Single Incision.
    J Craniofac Surg 2017 Jul 26. Epub 2017 Jul 26.
    Plastic Surgery Department, Children's Hospital of Fudan University, Shanghai, China.
    Purpose: This study aimed to investigate the effect of frontalis aponeurosis flap advancement in children with congenital severe blepharoptosis.

    Methods: A total of 23 cases (25 eyes) of children who had congenital severe blepharoptosis and poor levator function (≤4 mm) and received frontalis aponeurosis flap advancement treatment in the Plastic Surgery Department of the Children's Hospital of Fudan University from January 1, 2013, to January 1, 2015, were retrospectively analyzed to evaluate the postoperative effects.

    Results: All patients (age range, 6-27 months) were followed up for an average duration of 15. Read More

    Changes of corneal tomography in patients with congenital blepharoptosis.
    Sci Rep 2017 Jul 26;7(1):6580. Epub 2017 Jul 26.
    Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, China.
    The study aimed to evaluate the effect of drooped eyelid on corneal tomography in congenital blepharoptosis patients. Sixty-four patients with congenital blepharoptosis and 64 age- and sex- matched healthy subjects were included. According to the eyelid margin to corneal light reflex distance (MRD), eyes with congenital blepharoptosis were categorized as mild, moderate, or severe. Read More

    Hering's Law in Congenital Ptosis: Evaluation of the Contralateral Response to Unilateral Congenital Ptosis Repair.
    Ophthal Plast Reconstr Surg 2017 Jul 18. Epub 2017 Jul 18.
    *Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, †Carver College of Medicine, University of Iowa, Iowa City, Iowa, ‡Department of Biostatistics, College of Public Health, University of Iowa, §MD Anderson Cancer Center, Houston, Texas, and ‖Cincinnati Eye Institute, Cincinnati, Ohio, U.S.A.
    Purpose: To determine the applicability and clinical relevance of Hering's law for the eyelids in cases of congenital ptosis.

    Methods: A retrospective chart review and digital photograph analysis of patients who underwent unilateral congenital ptosis repair at a tertiary, university-based, Oculoplastics clinic was conducted. Pre- and postoperative eyelid height (marginal reflex distance), upper eyelid symmetry, and brow position were determined using ImageJ analysis software. Read More

    Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique.
    J AAPOS 2017 Jul 14. Epub 2017 Jul 14.
    Department of Ophthalmology, VMMC & Safdarjung Hospital, Ansari Nagar, New Delhi, India.
    Purpose: To compare the results of two different frontalis sling surgery techniques with silicon rod for ptosis: Fox's single pentagon technique and a modification of Crawford's double triangle technique.

    Methods: In a randomized clinical trial, 52 eyes of 50 patients with severe ptosis and poor levator function (≤4 mm) were randomly assigned to the Fox group or the modified Crawford group. Cosmetic outcome, functional success, and lagophthalmos were compared. Read More

    Evaluation and management of vaginoplasty complications.
    Curr Opin Obstet Gynecol 2017 Jul 10. Epub 2017 Jul 10.
    aDepartment of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, Washington bDepartment of Obstetrics and Gynecology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
    Purpose Of Review: Indications for vaginoplasty include congenital conditions such as adrenal hyperplasia, cloacal malformations, and Müllerian agenesis, acquired conditions including stenosis from radiation or surgical resection for malignancy, and gender affirmation. All vaginoplasty techniques carry significant risk of both immediate and long-term complications.

    Recent Findings: The purpose of this study is to provide a review of the evaluation and management of the neovagina, addressing management of human papilloma virus infections and complications including stenosis, fistula, prolapse, and neovaginal colitis. Read More

    Levator resection for congenital ptosis: Does pre-operative levator function or degree of ptosis affect successful outcome?
    Orbit 2017 Jul 11:1-6. Epub 2017 Jul 11.
    a Orbital, Plastic & Lacrimal Unit , Royal Victorian Eye and Ear Hospital , East Melbourne , Victoria , Australia.
    The aim of this study was to determine whether pre-operative levator function and degree of ptosis affect surgical outcomes in children with congenital ptosis undergoing anterior levator resection under general anaesthesia. Retrospective cohort study. Children with 'simple' congenital ptosis who underwent anterior levator resection under general anaesthesia. Read More

    Factors associated with aortic root dilatation after surgically repaired ventricular septal defect.
    Echocardiography 2017 Jul 6. Epub 2017 Jul 6.
    Department of Cardiology, Tokyo Women's Medical University, Tokyo, Japan.
    Background: Aortic root dilatation (ARD) in congenital heart disease is related to aortic aneurysm, rupture, and dissection. This study aimed to investigate the factors associated with ARD in patients with surgically repaired ventricular septal defect (VSD).

    Methods: This cross-sectional study included 152 patients with surgically repaired VSD. Read More

    Simultaneous Versus Sequential Ptosis and Strabismus Surgery in Children.
    Ophthal Plast Reconstr Surg 2017 Jun 28. Epub 2017 Jun 28.
    Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.
    Purpose: The authors sought to compare the clinical outcomes of simultaneous versus sequential ptosis and strabismus surgery in children.

    Methods: Retrospective, single-center cohort study of children requiring both ptosis and strabismus surgery on the same eye. Simultaneous surgeries were performed during a single anesthetic event; sequential surgeries were performed at least 7 weeks apart. Read More

    The Relationship of Amount of Resection and Time for Recovery of Bell's Phenomenon after Levator Resection in Congenital Ptosis.
    Open Ophthalmol J 2017 28;11:24-30. Epub 2017 Feb 28.
    Department of Ophthalmology, Gurunanak Eye Center, New Delhi, India.
    Background: Recovery of Bell`s phenomenon after levator resection is unpredicatable. Delayed recovery can result in vision threatening corneal complications.

    Aim: To study the variability of Bell's phenomenon and time taken for its recovery following levator resection for blepharoptosis and to correlate it with the amount of resection. Read More

    Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
    JAMA Neurol 2017 Jul;74(7):806-812
    Institute of Neurogenetics, University Lübeck, Lübeck, Germany.
    Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum.

    Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment).

    Design, Setting, And Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Read More

    Spontaneous Blinking Kinematics in Patients Who Have Undergone Autogeneous Fascia Frontalis Suspension.
    Curr Eye Res 2017 May 30:1-6. Epub 2017 May 30.
    a Department of Ophthalmology , Otorhinolaryngology and Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo , São Paulo , Brazil.
    Purpose: To measure spontaneous blink metrics and brow motion in patients with congenital ptosis operated with frontalis slings with autogenous fascia lata.

    Methods: An infrared three-dimensional video motion analyzer was employed to simultaneously measure brow motion and spontaneous blinks of 17 patients with congenital ptosis who underwent frontalis sling with autogenous fascia lata and a control group of equal number of healthy subjects. A customized software identified and quantified the amplitude and maximum velocity spontaneous blinks eyelid and brown motion during a 5-minute observation of a commercial movie. Read More

    Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype-phenotype correlation.
    Neuromuscul Disord 2017 Jul 6;27(7):616-618. Epub 2017 Apr 6.
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA. Electronic address:
    DNA2 encodes a protein with nuclease, ATPase, and helicase domains, and serves to maintain mitochondrial DNA integrity. Mutations in DNA2 cause autosomal dominant progressive ophthalmoplegia with mitochondrial DNA deletions. This disorder was first reported in four patients with heterozygous, missense mutations in DNA2. Read More

    Renal anomalies and lymphedema distichiasis syndrome. A rare association?
    Am J Med Genet A 2017 Aug 23;173(8):2251-2256. Epub 2017 May 23.
    Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.
    Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c. Read More

    Congenital Double Elevator Palsy with Sensory Exotropia: A Unique Surgical Management.
    J Ophthalmic Vis Res 2017 Apr-Jun;12(2):222-224
    Department of Ophthalmology, Himalayan Institute of Medical Sciences, Jolly Grant, Dehradun, Uttarakhand, India.
    Purpose: To report a unique surgical approach for congenital double elevator palsy with sensory exotropia.

    Case Report: A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with recession and resection of the horizontal recti for exotropia without inferior rectus recession, followed by frontalis sling surgery for congenital ptosis.

    Conclusions: Favourable surgical outcome was achieved without any complication. Read More

    Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis.
    Front Neurol 2017 5;8:190. Epub 2017 May 5.
    Section of Pediatric Ophthalmology, Children's Hospital, University of Manitoba, Winnipeg, MB, Canada.
    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. Read More

    Efficacy of brow suspension with autogenous fascia lata in simple congenital ptosis.
    Pak J Med Sci 2017 Mar-Apr;33(2):439-442
    Dr. Asfandyar Khan, MBBS, FCPS. Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan.
    Objective: To assess the mean change in interpalpebral fissure height and marginal reflex distance after brow suspension with autogenous fascia lata sling in patients of ptosis.

    Methods: This was a Quasi experimental study conducted at Department of Ophthalmology, Mayo Hospital, King Edwards Medical University Lahore, from Jan 2013 to June 2016. Included were the patients who had unilateral or bilateral ptosis with poor levator function (< 5 mm). Read More

    Common origin of all three coronary arteries from the right sinus of Valsalva - first case study accompanied by mitral valve prolapse and vein anomaly, second case study followed by successful percutaneous coronary intervention of right coronary artery stenosis.
    Kardiochir Torakochirurgia Pol 2017 Mar 31;14(1):66-70. Epub 2017 Mar 31.
    Department of Doctoral Studies, University of Economics, Katowice, Poland.
    Congenital anomalies of the coronary arteries can be divided into two broad categories: those that alter myocardial perfusion and those that do not. In coronary anomalies not altering myocardial perfusion, the coronary arteries originate from the aorta, but their origins are in unusual positions. Although myocardial perfusion is normal, the angiographer may have trouble locating them. Read More

    A retrospective analysis of mitral valve pathology in the setting of bicuspid aortic valves.
    Echo Res Pract 2017 Jun 17;4(2):21-28. Epub 2017 May 17.
    Division of Cardiology, Department of Medicine, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa.
    The therapeutic implications of bicuspid aortic valve associations have come under scrutiny in the transcatheter aortic valve implantation era. We evaluate the spectrum of mitral valve disease in patients with bicuspid aortic valves to determine the need for closer echocardiographic scrutiny/follow-up of the mitral valve. A retrospective analysis of echocardiograms done at a referral hospital over five years was conducted in patients with bicuspid aortic valves with special attention to congenital abnormalities of the mitral valve. Read More

    Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
    Eur J Hum Genet 2017 Aug 17;25(8):946-951. Epub 2017 May 17.
    Department of Medical Genetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. Read More

    Combined Surgery for Simultaneous Treatment of Congenital Ptosis and Coexisting Strabismus.
    J Pediatr Ophthalmol Strabismus 2017 May 15:1-7. Epub 2017 May 15.
    Purpose: To evaluate the clinical outcomes of single-stage surgery for treatment of patients with congenital ptosis and coexisting strabismus.

    Methods: A retrospective analysis was performed on 10 patients (17 eyes) with congenital ptosis and coexisting strabismus. Patients were treated with levator resection or frontalis suspension for ptosis and ocular muscle surgery for strabismus, performed as a single-stage procedure. Read More

    Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.
    Neurol Genet 2017 Jun 3;3(3):e152. Epub 2017 May 3.
    Institute of Genetic Medicine (Y.A., A.T., T.E., P.J.L., A.R., H.L.), Newcastle University, UK; Division of Neurology (P.J.L.), Federal University of Parana, Brazil; Leibniz-Institut für Analytische Wissenschaften ISAS e.V. (A.R.), Germany; Department of Neurosciences and Mental Health (P.V.), University of Lisbon, Portugal; and Division of Molecular Genetics (H.I., H.K.), Fujita Health University, Japan.
    Objective: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS).

    Methods: Candidate gene screening and WGS analysis were performed in the case. Allele-specific PCR was subsequently performed to confirm the copy number variation (CNV) that was suspected from the WGS results. Read More

    The changing epidemiology and clinical features of infective endocarditis: A retrospective study of 196 episodes in a teaching hospital in China.
    BMC Cardiovasc Disord 2017 May 8;17(1):113. Epub 2017 May 8.
    Department of Infectious Diseases, The First Affiliated Hospital of China Medical University, No. 155 Nanjing Northern Street, Shenyang, Liaoning, 110001, China.
    Background: Infective endocarditis is an uncommon but life-threatening infectious disease. To our knowledge, current investigations of the characteristics of infective endocarditis in our region are scarce. In this study, we aimed to investigate the changes in the epidemiology and clinical features of infective endocarditis. Read More

    Ocular Congenital Cranial Dysinnervation Disorders (CCDDs): Insights into Axon Growth and Guidance.
    Hum Mol Genet 2017 Apr 28. Epub 2017 Apr 28.
    F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
    Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability. Read More

    Evaluation of the complex treatment for congenital blepharoptosis.
    Plast Surg (Oakv) 2016 19;24(3):183-186. Epub 2016 Aug 19.
    Department of Plastic, Reconstructive and Aesthetic Surgery, Medical University of Łódź, Institute of Surgery.
    Objective: To evaluate the results of treatment of congenital blepharoptosis (CBP) using selected surgical methods; and to evaluate concomitant visual system disorders.

    Methods: Between 2001 and 2010, 52 children with CBP underwent surgical correction of CBP using the modified method of Mustarde, the original Mustarde method or frontal suspension at the Department of Plastic Surgery, Medical University of Lodz (Poland). Based on the results of ophthalmic and orthoptic examination, and standard measurements, postoperative differences in the position and symmetry of the upper eyelids, complications, and visual system abnormalities were analyzed. Read More

    Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
    Neuropediatrics 2017 Apr 15. Epub 2017 Apr 15.
    Department of Child Neurology, Justus Liebig University, Giessen, Germany.
    Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c. Read More

    A Modified Levator Resection Technique Involving Retention of the Levator Palpebrae Superioris Muscle Suspension System for Treatment of Congenital Ptosis.
    Aesthetic Plast Surg 2017 Aug 4;41(4):856-862. Epub 2017 Apr 4.
    Mylike Medical Cosmetic Hospital, Mylike Tower, 789 West Yan'an Road, Changning District, Shanghai, China.
    Background: The classical levator resection (LR) technique for correcting ptosis involves separating the levator palpebrae superioris muscle (LPS) completely, which will inevitably collapse the muscle. The modified surgical method involving retention of the LPS suspensory system can allow for more contractility of the levator muscle and thus maximize protection of the eyelid structure.

    Methods: Ninety patients (132 eyelids) with different degrees of ptosis were enrolled. Read More

    Frequency of Development of Aortic Valve Disease in Unrepaired Perimembranous Ventricular Septal Defects.
    Am J Cardiol 2017 May 28;119(10):1670-1674. Epub 2017 Feb 28.
    Division of Pediatric Cardiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
    We sought to determine the natural history of aortic valve disease in patients with unrepaired perimembranous ventricular septal defects (pVSDs) and to identify echocardiographic parameters predictive of increased risk of surgical repair of pVSD because of aortic valve disease. We retrospectively analyzed all echocardiograms of patients with a diagnosis of pVSD at our institution from January 1999 to January 2015. All available echocardiographic data were collected. Read More

    Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension: Results and Literature Review.
    Semin Ophthalmol 2017 Mar 15:1-7. Epub 2017 Mar 15.
    d Plastic and Reconstructive Surgery Service , Ospedale San Raffaele , Milan , Italy.
    Background: Several treatments have been described for the treatment of congenital ptosis, but there are few studies that analyze the effectiveness of a therapeutic approach rather than a single technique.

    Aims: In this study, we aim to evaluate the effectiveness of our therapeutic algorithm, which relies on levator muscle resection and frontalis suspension with silicone rods, polytetrafluoroethylene (PTFE), or autologous fascia lata.

    Methods: We retrospectively analyzed all patients affected by congenital ptosis who underwent corrective surgery at a single department between January 1998 and January 2016. Read More

    Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis.
    GMS Ophthalmol Cases 2017 7;7:Doc07. Epub 2017 Mar 7.
    M.N. Eye Hospital, Chennai, India.
    Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. Read More

    Clinical presentation and management of congenital ptosis.
    Clin Ophthalmol 2017 27;11:453-463. Epub 2017 Feb 27.
    Department of Sense Organs, University of Rome "Sapienza".
    Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. Read More

    Vaginal Delivery After Dührssen Incisions in a Patient With Bladder Exstrophy and Uterine Prolapse.
    Obstet Gynecol 2017 Apr;129(4):689-692
    Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Southern California, Los Angeles, California.
    Background: Bladder exstrophy is a rare congenital anomaly affecting the lower abdominal wall, pelvis, and genitourinary structures. Pregnant women with bladder exstrophy present a unique challenge to the obstetrician.

    Case: The patient is a 35-year old pregnant woman with bladder exstrophy, an extensive surgical history, and uterine prolapse with an abnormal, rubbery consistency to her cervix. Read More

    Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect.
    Pediatr Surg Int 2017 Jul 7;33(7):813-816. Epub 2017 Mar 7.
    Yale-New Haven Hospital, New Haven, CT, USA.
    Congenital abdominal wall defects occur when normal embryonic development is interrupted and most commonly results in gastroschisis or omphalocele. Other entities, such as ruptured omphalocele, vanishing gastroschisis, and patent omphalomesenteric ducts with prolapse, have also been described and can create a confusing picture. This case of a newborn with a midline abdominal defect and a mass that was intestine-like and arose from the bowel cannot be classified, and no similar reports were found. Read More

    Pediatric Blepharoptosis.
    Semin Plast Surg 2017 Feb;31(1):58-64
    Department of Ophthalmology, Division of Oculoplastic and Reconstructive Surgery, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
    Congenital blepharoptosis, caused by levator muscle dysgenesis, presents at birth and may lead to disturbed visual development and function. Other causes of ptosis in pediatric patients can be myogenic, neurogenic, mechanical, or traumatic. Timely correction is, therefore, critical, and careful preoperative planning and intraoperative considerations are crucial to achieve optimal outcomes and minimize potential complications. Read More

    Etiopathogenetic patterns of blepharoptosis in Western Nepal : an Overview.
    Nepal J Ophthalmol 2016 Jan;8(15):36-40
    Background: The clinical picture of blepharoptosis varies from a cosmetic problem to severe visual dysfunction depending on the pathogenesis and the degree of ptosis.

    Objective: To study the type, pattern and causes of ptosis in patients seeking oculopastic care in western Terai of Nepal Patients and methods: A retrospective descriptive hospital based was carried out over a period of 2 years in oculoplastic clinic in Lumbini Eye Institute, Bhairahawa. Demographic variables including the age of the patient, gender, laterality of the eye(s), visual acuity, presence of refractive error and or amblyopia, type of ptosis and previous ptosis surgery were recorded. Read More

    De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.
    Mol Syndromol 2017 Jan 5;8(1):24-29. Epub 2016 Nov 5.
    Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
    Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay. Read More

    [Preimplantation genetic diagnosis and monogenic inherited eye diseases].
    Cesk Slov Oftalmol Fall 2016;72(5):167-171
    Objective: Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. Read More

    Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis.
    Graefes Arch Clin Exp Ophthalmol 2017 Apr 21;255(4):831-835. Epub 2017 Feb 21.
    Ophthalmology department, Faculty of Medicine, Menoufia University, Shebin El Kom, Menoufia, Egypt.
    Purpose: Severe congenital ptosis is commonly associated with poor levator function. This study compares the functional and cosmetic outcomes of open versus closed frontalis sling using Gore-Tex in the treatment of such conditions.

    Methods: Randomized interventional comparative case series of 20 eyes of 13 patients with severe congenital ptosis with levator excursion < 4 mm. Read More

    A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
    J Clin Neuromuscul Dis 2017 Mar;18(3):147-151
    *Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara, Turkey; and †Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
    Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. Read More

    Analysis of the causes of recurrence after frontalis suspension using silicone rods for congenital ptosis.
    PLoS One 2017 16;12(2):e0171769. Epub 2017 Feb 16.
    The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
    Background: Silicone rod is a commonly used synthetic suspension material in frontalis suspension surgery to correct blepharoptosis. The most challenging problem and a decisive drawback of the use of silicone rod is a considerable rate of ptosis recurrence after surgery. We examined patients with recurred ptosis and assessed the physical and micromorphological properties of implanted silicone rods to determine the causative mechanisms of recurred ptosis after frontalis suspension using silicone rod. Read More

    Evaluation of Prolonged QT Interval: Structural Heart Disease Mimicking Long QT Syndrome.
    Pacing Clin Electrophysiol 2017 Apr 16;40(4):417-424. Epub 2017 Mar 16.
    Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.
    Background: In about 20-25% of patients with congenital long QT syndrome (LQTS) a causative pathogenic mutation is not found. The aim of this study was to explore the prevalence of alternative cardiac diagnoses among patients exhibiting prolongation of QT interval with negative genetic testing for LQTS genes.

    Methods: We conducted a retrospective analysis of 239 consecutive patients who were evaluated in the inherited arrhythmia clinic at the Toronto General Hospital between July 2013 and December 2015 for possible LQTS. Read More

    Reckless formalin injection in the eyelid instead of local anesthetic: case report.
    Pan Afr Med J 2016 10;24:304. Epub 2016 Aug 10.
    Department of Legal Medicine, University Hospital Center Farhat Hached, Sousse, Tunisia.
    Accidental injection of formalin is certainly rare, but it has serious consequences in terms of morbidity and mortality. We report a case of severe ophthalmic damage due to an accidental formalin's injection in the eyelid of a three-year-old child presenting with congenital ptosis's surgical repair of her left eye. This accident has damaged the orbital region and led to upper left eyelid's necrosis, eyeball's deformation and ipsilateral cataract. Read More

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