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    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 May 30. Epub 2017 May 30.
    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 May 23. 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 May 17. Epub 2017 May 17.
    A van Rensburg, Department of Medicine, Division of Cardiology, Tygerberg Academic 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 May 17. 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 Apr 4. 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

    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

    Lacrimal intubation during dacryocystorhinostomy utilizing the STENTube.
    Orbit 2017 Feb 1;36(1):6-12. Epub 2017 Feb 1.
    b TOC Eye and Face , Austin , Texas , USA.
    The traditional use of the Crawford tube for lacrimal intubation during dacryocystorhinostomy (DCR) carries several drawbacks. We describe the use of the STENTube for DCR intubation and detail its advantages. Retrospective, noncomparative, interventional case series; 313 patients with nasolacrimal duct obstruction (NLDO) underwent 339 DCRs (216 external, 123 endonasal) with the STENTube from January 2007 - June 2013 by 5 surgeons (RS, QN, TS, SB, TN) across 3 institutions (SUNY Downstate Medical Center, Texas Oculoplastics Consultants, and Moorfields Eye Hospital). Read More

    [Technique of Suspension Surgery Using Palmaris Longus Tendon for Correction of Severe Blepharoptosis].
    Klin Monbl Augenheilkd 2017 Jan 30;234(1):46-52. Epub 2017 Jan 30.
    Plastische, Rekonstruktive und Handchirurgie, Privatordination, Wien, Österreich.
    Background In cases of blepharoptosis, the upper eyelid either cannot or can only be elevated insufficiently. The aetiology may be myogenic, aponeurotic, neurogenic, mechanical, or traumatic. The most common cause of congenital ptosis is myogenic, due to the improper development of the levator muscle. Read More

    Coexistence of abnormal systolic motion of mitral valve in a consecutive group of 324 adult Tetralogy of Fallot patients assessed with echocardiography.
    Open Heart 2016 30;3(2):e000518. Epub 2016 Dec 30.
    University of California San Francisco (UCSF) , San Francisco, California , USA.
    Background: The presence of mitral valve prolapse (MVP) in congenital heart disease (CHD) patients is not well described. Tetralogy of Fallot (TOF) is the most common cyanotic CHD associated with overall good long-term survival after palliation. Since MVP is more often identified in adults and TOF patients are now surviving longer, we thus sought to perform this cohort study with a case-control design to (1) determine the prevalence of MVP and systolic displacement of mitral leaflets (SDML) in adult TOF patients, and (2) describe their clinical and imaging characteristics. Read More

    A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.
    Med Princ Pract 2017 18;26(2):195-198. Epub 2017 Jan 18.
    Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
    Objective: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D.

    Clinical Presentation And Intervention: The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camptodactyly and neck pterygium. The facial dysmorphic features noted include ptosis and microretrognathia. Read More

    Measurement of Aortic Valve Coaptation and Effective Height Using Echocardiography in Patients with Ventricular Septal Defects and Aortic Valve Prolapse.
    Pediatr Cardiol 2017 Mar 21;38(3):608-616. Epub 2017 Jan 21.
    Department of Pediatric Cardiology, Shizuoka Children's Hospital, Shizuoka, Japan.
    Decreased coaptation height in adults has been identified as a marker of early valve failure. We evaluated aortic valve coaptation and effective height in healthy children and in children with a ventricular septal defect (VSD) with aortic cusp prolapse (ACP), using echocardiography. We included 45 subjects with VSD with ACP, 27 did not develop aortic regurgitation (AR) by ACP and 18 developed AR by ACP, and 83 healthy children as controls. Read More

    [Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant].
    Zhongguo Dang Dai Er Ke Za Zhi 2017 Jan;19(1):68-72
    Department of Pediatric Endocrine and Genetic Metabolic Disease, Maternal and Children's Hospital of Hubei Province, Wuhan 430070, China.
    Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Read More

    The effect of educational internships on medical students' perceptions of plastic surgery.
    J Pak Med Assoc 2017 Jan;67(1):66-72
    Department of Plastic Reconstructive and Aesthetic Surgery, Gulhane Military Medical Faculty, Ankara, Turkey.
    Objective: To investigate the effects of plastic, reconstructive and aesthetic surgery educational internships on medical students' perceptions of the scope of plastic surgery.

    Methods: This cross-sectional study was conducted at the Gulhane Medical Faculty, Ankara, Turkey, from 2012 to 2013, and comprised 4th-, 5th- and 6th-year medical students. Students were given a questionnaire consisting of 28 questions related to maxillofacial and upper and lower extremity medical conditions, and skin, aesthetic and congenital anomalies. Read More

    Factors Associated With Surgical Outcomes in Congenital Ptosis: A 10-Year Study of 319 Cases.
    Am J Ophthalmol 2017 Mar 28;175:173-182. Epub 2016 Dec 28.
    Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, and the College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:
    Purpose: To evaluate the 10-year results of surgery for congenital ptosis and identify factors associated with excellent outcomes and recurrence.

    Design: Retrospective, interventional case series.

    Methods: A retrospective analysis was conducted of 319 patients who underwent surgical correction at a tertiary medical center for congenital ptosis. Read More

    Alterations in corneal epithelial thickness in patients with congenital myogenic eyelid ptosis.
    Int Ophthalmol 2016 Dec 26. Epub 2016 Dec 26.
    Department of Ophthalmology, Ministry of Health, Diskapi Yildirim Beyazit Training and Research Hospital, Irfan Baştuğ Cad. Dışkapı, 06130, Ankara, Turkey.
    Purpose: To evaluate whether the corneal epithelial thickness (CET) maps obtained by optical coherence tomography (OCT) of the congenital myogenic eyelid ptosis differ from controls.

    Methods: CET maps of 13 patients with congenital myogenic eyelid ptosis (m/f = 9/4; mean age 20.5 ± 7. Read More

    The frequency and causes of abnormal head position based on an ophthalmology clinic's findings: is it overlooked?
    Eur J Ophthalmol 2016 Dec 2. Epub 2016 Dec 2.
    Department of Ophthalmology, Faculty of Medicine, Hacettepe University, Ankara - Turkey.
    Purpose: To determine the frequency of abnormal head position (AHP) and identify the underlying causes in patients who presented to an ophthalmology clinic due to any ophthalmologic complaint.

    Methods: The medical records of patients who presented with any ophthalmologic symptoms during a 6-month period were prospectively evaluated. In all, 2,710 patients (1,492 female and 1,218 male) aged 6 months-91 years were included in the study. Read More

    Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
    J Hum Genet 2017 Apr 22;62(4):465-471. Epub 2016 Dec 22.
    CHU-Sainte Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.
    Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Read More

    UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.
    J Biol Chem 2017 Feb 21;292(6):2470-2484. Epub 2016 Dec 21.
    From the Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261,
    Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer from Kaufman oculocerebrofacial syndrome (KOS, also reported as blepharophimosis-ptosis-intellectual disability syndrome). The primary cause of KOS is autosomal recessive mutations in the gene UBE3B However, to date, there are no studies that have determined the cellular or enzymatic function of UBE3B. Here, we report that UBE3B is a mitochondrion-associated protein with homologous to the E6-AP Cterminus (HECT) E3 ubiquitin ligase activity. Read More

    Nontraumatic orbital roof encephalocele.
    J AAPOS 2017 Feb 16;21(1):81-83. Epub 2016 Dec 16.
    Nemours Children's Hospital, Department of Ophthalmology, Orlando, Florida.
    Intraorbital meningoencephaloceles occur most commonly as a complication of traumatic orbital roof fractures. Nontraumatic congenital orbital meningoncephaloceles are very rare, with most secondary to destructive processes affecting the orbit and primary skull defects. Treatment for intraorbital meningoencephaloceles is surgical repair, involving the excision of herniated brain parenchyma and meninges and reconstruction of the osseous defect. Read More

    Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome.
    J Pediatr Ophthalmol Strabismus 2016 Dec 8;53:e72-e74. Epub 2016 Dec 8.
    The authors describe a 2-year-old girl diagnosed as having posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities (PHACE) syndrome that presented with a large facial hemangioma of the forehead and eyelid, ptosis, microphthalmia, persistent pupillary membrane and pupillary ectopia, congenital oculomotor nerve palsy of the affected eye, and bilateral optic disc dysplasia. [J Pediatr Ophthalmol Strabismus. 2016;53:e72-e74. Read More

    Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review.
    Pediatrics 2016 Dec 17;138(6). Epub 2016 Nov 17.
    Departments of Pediatrics, Section of Neurology, and.
    Inverse Marcus Gunn phenomenon is a rare form of congenital facial synkinesis in which jaw movement temporarily elicits ptosis, either unilateral or bilateral. This phenomenon is presumed to result from dysinnervation of facial muscles during development of the nervous system. We describe 2 brothers, both with inverse Marcus Gunn phenomenon in the context of multiple other congenital anomalies, all presumed secondary to a chromosomal abnormality involving 12q duplication and 1p36 deletion. Read More

    Effect of upgaze on lower eyelid position in Korean patients with congenital ptosis.
    J Plast Reconstr Aesthet Surg 2017 Mar 11;70(3):380-384. Epub 2016 Nov 11.
    Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:
    Purpose: The purpose of this study was to demonstrate accompanying clinical features besides lid droop in congenital ptosis and to determine the effect of upgaze on lower eyelid position in patients with congenital ptosis.

    Methods: Pediatric patients with congenital ptosis who visited our clinic over a 1-month period in 2014 were recruited for this study. Clinical photographs and measurements were taken prospectively in primary gaze and upgaze. Read More

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