2,850 results match your criteria Ptosis Congenital


TGFBR1 Rare Variant Associated With Thoracic Aortic Aneurysm, Double Chamber Left Ventricle, Coronary Anomaly, and Inducible Ventricular Tachycardia.

Circ Cardiovasc Imaging 2020 Jun;13(6):e010084

Division of Cardiology (K.B.-J., N.B.M., D.R., S.N., I.A.E., D.K., R.W.S., S.K.P.), Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston.

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http://dx.doi.org/10.1161/CIRCIMAGING.119.010084DOI Listing

Treatment of Congenital Ptosis in Infants With Associated Amblyopia Using a Frontalis Muscle Flap Eyelid Reanimation Technique.

Ophthalmic Plast Reconstr Surg 2020 May 21. Epub 2020 May 21.

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan and.

Purpose: To determine the efficacy of a frontalis muscle flap eyelid reanimation technique for correction of severe congenital ptosis and associated amblyopia in infants.

Methods: The authors performed a retrospective chart review of patients 12 months of age or younger with unilateral or bilateral congenital ptosis and associated amblyopia or deemed at high risk for amblyopia due to visual deprivation. Following ptosis repair via a frontalis muscle flap technique, primary outcomes of postoperative eyelid position and amblyopia reversal were assessed. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001697DOI Listing

The rare phenomenon of Marcus-Gunn jaw winking without ptosis: Report of 14 cases and review of the literature.

Indian J Ophthalmol 2020 Jun;68(6):1132-1135

Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.

Purpose: To report a rare case series of 14 patients of the Marcus-Gunn jaw-winking phenomenon (MGJWP) without ptosis.

Methods: This was a retrospective noninterventional case series. The medical records of all patients diagnosed with MGJWP over the past 10 years were retrieved. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1099_19DOI Listing

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Horm Res Paediatr 2020 May 26:1-10. Epub 2020 May 26.

Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, Bron, France.

Background: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of FOXL2 gene alteration in a series of patients with congenital hypopituitarism and eyelid anomalies. Read More

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http://dx.doi.org/10.1159/000507249DOI Listing

Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.

J Clin Neuromuscul Dis 2020 Jun;21(4):222-224

Neurology Department, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.

Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Mutations in novel genes have been described in recent years. Among these, MUSK gene mutations are extremely rare, with only 8 families identified worldwide to date. Read More

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http://dx.doi.org/10.1097/CND.0000000000000277DOI Listing

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

J Inherit Metab Dis 2020 Jan 6. Epub 2020 Jan 6.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

Background: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition. Read More

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http://dx.doi.org/10.1002/jimd.12211DOI Listing
January 2020

Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.

Case Rep Pediatr 2020 20;2020:2031701. Epub 2020 Apr 20.

Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.

The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Read More

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http://dx.doi.org/10.1155/2020/2031701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189309PMC

The Prevalence of Blepharoptosis in Facial Rejuvenation Patient Population.

Aesthetic Plast Surg 2020 Apr 30. Epub 2020 Apr 30.

, Cleveland, OH, USA.

Background: Facial rejuvenation results, commonly seen in publications or national presentations, are fraught with uncorrected eyelid ptosis. This study was conducted to investigate the frequency of blepharoptosis in the rejuvenation population and to help increase awareness in recognizing this under corrected condition.

Methods: Fifty-nine consecutive patients being evaluated for facial rejuvenation were included in the study. Read More

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http://dx.doi.org/10.1007/s00266-020-01732-zDOI Listing

Use of double-J ureteric stents post-laparoscopic pyeloplasty to treat ureteropelvic junction obstruction in hydronephrosis for pediatric patients: a single-center experience.

J Int Med Res 2020 Apr;48(4):300060520918781

Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Objectives: We aimed to investigate the safety concerns associated with placing double-J ureteric stents post-laparoscopic pyeloplasty surgery for congenital ureteropelvic junction obstruction (UPJO) and hydronephrosis.

Methods: A total of 1349 patients with postoperative double-J stent placement at our center were included. Clinical variables for enrolled patients were collected by two independent authors. Read More

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http://dx.doi.org/10.1177/0300060520918781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218463PMC
April 2020
1.095 Impact Factor

Transthoracic echocardiography features of adult-type anomalous left coronary artery from the pulmonary artery before and after surgery: highlights from observational study in a single center of China.

Int J Cardiovasc Imaging 2020 Apr 23. Epub 2020 Apr 23.

Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, 106 Zhongshan Er Road, Guangzhou, 510100, China.

To review the imaging characteristics of adult-type anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) and evaluate the post-operative echocardiographic features. The transthoracic echocardiography (TTE) records and invasive coronary angiography (ICA), coronary computed tomography angiography (CTA) or operative findings of thirty adult patients with final diagnosis of ALCAPA were reviewed at our center. The diagnostic reliability of TTE was determined by comparing its results with that of ICA/CTA, and the echocardiographic features of the patients during early visit and post-operative follow-up were summarized. Read More

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http://dx.doi.org/10.1007/s10554-020-01857-xDOI Listing

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

Medicine (Baltimore) 2020 Apr;99(16):e19813

Yinfeng Medical Laboratory, Jinan Shandong.

Rationale: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p. Read More

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http://dx.doi.org/10.1097/MD.0000000000019813DOI Listing

Uterovaginal Prolapse in a Newborn with Meningomyelocele: Case Report.

J Pediatr Adolesc Gynecol 2020 Apr 15. Epub 2020 Apr 15.

Division of Neonatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Neural tube defects are a group of congenital malformations in which the spinal column is bifid as a result of failed closure of the embryonic neural tube. Although not common, they might be complicated with pelvic organ prolapse mostly due to abnormal innervation and the resulting atrophy of the pelvic floor musculature.

Case: In this case report we present a newborn with uterovaginal prolapse in the setting of meningomyelocele, in whom the prolapse of pelvic organs spontaneously ameliorated after surgical correction of meningomyelocele. Read More

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http://dx.doi.org/10.1016/j.jpag.2020.04.001DOI Listing

A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.

Neuropathol Appl Neurobiol 2020 Apr 8. Epub 2020 Apr 8.

NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Aims: Congenital myasthenic syndromes (CMS) are characterized by muscle weakness, ptosis and episodic apnoea. Mutations affect integral protein components of the neuromuscular junction (NMJ). Here we searched for the genetic basis of CMS in female monozygotic twins. Read More

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http://dx.doi.org/10.1111/nan.12617DOI Listing

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Hum Mol Genet 2020 May;29(8):1330-1339

Departments of Biomedicine, Basel University Hospital, 4031 Basel, Switzerland.

Mutations in the RYR1 gene are the most common cause of human congenital myopathies, and patients with recessive mutations are severely affected and often display ptosis and/or ophthalmoplegia. In order to gain insight into the mechanism leading to extraocular muscle (EOM) involvement, we investigated the biochemical, structural and physiological properties of eye muscles from mouse models we created knocked-in for Ryr1 mutations. Ex vivo force production in EOMs from compound heterozygous RyR1p. Read More

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http://dx.doi.org/10.1093/hmg/ddaa056DOI Listing

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review.

Neuropediatrics 2020 Mar 28. Epub 2020 Mar 28.

Department of Pediatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.

The congenital myasthenia syndromes (CMS) are a group of autosomal recessive or autosomal dominant diseases that affect neuromuscular junctions. CMS caused by AGRN mutations is very uncommon typically characterized by ptosis, mild weakness, and proximal limb weakness. We report the case of an 8-year-old female who exhibited the onset of motor development retardation from infancy and slow progression to proximal muscle weakness. Read More

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http://dx.doi.org/10.1055/s-0040-1708534DOI Listing

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.

Front Genet 2020 11;11:198. Epub 2020 Mar 11.

Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, China.

Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, and hypergonadotropic hypogonadism. This syndrome is an autosomal recessive disease resulting from mutations in the gene. Previous reports have associated PREPL deficiency with only one nucleotide substitution, the deletion of four nucleotides, and eight small microdeletions in the gene In this study, we used whole exome sequencing (WES) to identify a novel homozygous splicing mutation (c. Read More

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http://dx.doi.org/10.3389/fgene.2020.00198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078161PMC

Evaluation of All Causes of Visual Function Loss in Children With Congenital Blepharoptosis.

J Pediatr Ophthalmol Strabismus 2020 Mar;57(2):97-102

Purpose: To evaluate the overall frequency of visual function loss in pediatric patients with congenital blepharoptosis.

Methods: This retrospective study was conducted in a tertiary center. The clinical records of patients younger than 18 years who were diagnosed as having congenital blephroptosis, underwent surgery, and had at least 1 year of postoperative follow-up were evaluated. Read More

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http://dx.doi.org/10.3928/01913913-20200120-01DOI Listing

Dental and maxillofacial features of Noonan Syndrome: Case series of ten patients.

J Craniomaxillofac Surg 2020 Mar 6;48(3):242-250. Epub 2020 Feb 6.

Oral and Maxillofacial Surgery Department, Roger Salengro Hospital, Avenue du Professeur Emile Laine, 59037, Lille, France; Université Lille 2 Droit et Santé, 1 Pl. de Verdun, 59000, Lille, France; INSERM U1008, Controlled Drug Delivery Systems and Biomaterials, Faculté de Pharmacie, 3, rue du Professeur Laguesse, BP83, 59006, Lille Cedex, France.

Noonan syndrome (NS) is a relatively common congenital multiple-anomaly syndrome, resembling Turner syndrome, but without chromosomal anomaly. Besides the unusual facies, the maxillofacial and dental features of patients with NS are not well-summarized in the literature. The aim of this study was to describe these features and propose specific treatment guidelines for practitioners involved in oral and maxillofacial care. Read More

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http://dx.doi.org/10.1016/j.jcms.2020.01.011DOI Listing

Tricuspid valve repair in children with hypoplastic left heart syndrome: impact of timing and mechanism on outcome.

Eur J Cardiothorac Surg 2020 Jun;57(6):1083-1090

Department of Cardiovascular Surgery, German Heart Center Munich at the Technical University of Munich, Munich, Germany.

Objectives: Our aim was to evaluate the results of tricuspid valve repair (TVr) in patients with hypoplastic left heart syndrome during staged reconstruction, focussing on the timing of the repair and the mechanisms of tricuspid regurgitation (TR).

Methods: Records of 44 children with hypoplastic left heart syndrome who underwent a total of 62 tricuspid valve (TV) procedures during staged reconstruction were retrospectively analysed.

Results: TVr was performed before stage II in 4 (9%) patients, at stage II in 23 (52%) patients, between stages II and III in 3 (7%) patients and at stage III in 14 (32%) patients. Read More

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http://dx.doi.org/10.1093/ejcts/ezaa004DOI Listing

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

Eur J Med Genet 2020 May 3;63(5):103877. Epub 2020 Feb 3.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:

Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103877DOI Listing

Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo Pathogenic Variant.

Mol Syndromol 2020 Jan 26;10(6):344-347. Epub 2019 Nov 26.

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Cardiofaciocutaneous (CFC) syndrome is one of the developmental disorders caused by a dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. RASopathies share overlapping clinical features, making the diagnosis challenging, especially in the newborn period. The majority of CFC syndrome cases arise by a mutation in the , or (rarely) genes. Read More

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http://dx.doi.org/10.1159/000504374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995951PMC
January 2020

Screening and evaluation of newly diagnosed cardiovascular diseases in first-trimester asymptomatic pregnant women in a tertiary antenatal care center in Turkey.

Anatol J Cardiol 2020 Jan;23(2):99-104

Department of Obstetric and Gynecology, Zekai Tahir Burak Women's Health Training and Research Hospital; Ankara-Turkey.

Objective: Cardiovascular disease (CVD) is the leading cause of death during pregnancy. Therefore, its detection early in pregnancy is of great importance. In this study, we aimed to investigate the rate and spectrum of CVD among healthy women in the first trimester of pregnancy. Read More

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http://dx.doi.org/10.14744/AnatolJCardiol.2019.55267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040868PMC
January 2020

A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.

Eur J Med Genet 2020 Apr 23;63(4):103854. Epub 2020 Jan 23.

Reparative Therapy of the Heart, Valld'Hebron Research Institute (VHIR), Cardiac Surgery Department, University Hospital Valld'Hebron. Barcelona, Spain. Electronic address:

Objective: Polyvalvularmyxomatous degeneration is a rare clinical condition. A 51-year-old male patient presented at our centre with all four heart valves with myxomatous degeneration and severe mitral and aortic regurgitation due to leaflet prolapse. The patient referred five further family members with valvular heart disease at different stages of presentation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103854DOI Listing

Reexamining remodelling in children.

Eur J Cardiothorac Surg 2020 Jun;57(6):1091-1097

Department of Thoracic and Cardiovascular Surgery, Saarland University Medical Center, Homburg, Germany.

Objectives: Some studies have suggested that root remodelling is unsuitable as valve-sparing aortic root replacement in children because of the increased risk of valve failure. This study reviewed our experience with root remodelling in children.

Methods: All patients who underwent root remodelling at the age of ≤18 years between 1999 and 2016 were evaluated. Read More

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http://dx.doi.org/10.1093/ejcts/ezz380DOI Listing

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.

J Hum Genet 2020 Apr 21;65(4):387-396. Epub 2020 Jan 21.

Department of Hepatology, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Shanghai, China.

NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked deglycosylation (NGLY1-CDDG). To date, no patients with NGLY1 deficiency has been reported from mainland China or East Asia in English literature. Here, we present six patients with a diagnosis of NGLY1-CDDG on the basis of clinical phenotype, genetic testing, and functional studies. Read More

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http://dx.doi.org/10.1038/s10038-019-0719-9DOI Listing

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.

BMC Cardiovasc Disord 2020 Jan 20;20(1):27. Epub 2020 Jan 20.

Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.

Background: TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of TAB2 causes CHD. To date, seven variants within TAB2 were reported associated with CHD, only two of them are nonsense mutations. Read More

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http://dx.doi.org/10.1186/s12872-019-01322-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6971906PMC
January 2020

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome.

Front Neurol 2019 20;10:1300. Epub 2019 Dec 20.

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

A 30-year-old woman with congenital vocal cord paralysis presented for evaluation of fatigable proximal upper limb weakness and difficulty maintaining the neck erect. Neurologic examination showed bilateral asymmetric eyelid ptosis, mild weakness (MRC 4/5), and atrophy of neck extensors and shoulder girdle muscles, whereas lower limb muscle strength was normal. Repetitive nerve stimulation revealed decremental responses in orbicularis oculis and trapezius. Read More

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http://dx.doi.org/10.3389/fneur.2019.01300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934021PMC
December 2019

A Study of Histopathologic Evaluation and Clinical Correlation for Isolated Congenital Myogenic Ptosis and Aponeurotic Ptosis.

Ophthalmic Plast Reconstr Surg 2020 Jan 3. Epub 2020 Jan 3.

Medicine Faculty, Department of Ophthalmology, Ankara University, Ankara, Turkey.

Purpose: To evaluate light microscopy and transmission electron microscopy findings of levator muscle/aponeurosis materials and their correlation with clinical findings in isolated congenital myogenic and aponeurotic blepharoptosis.

Methods: Demographic and clinical data were obtained from patients. Qualitative and quantitative evaluations for muscle fiber morphology were performed using light microscopy and transmission electron microscopy on tissue samples which were obtained from the most proximal part of the aponeurosis excised during levator muscle/aponeurosis resection surgery. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001564DOI Listing
January 2020

The Type and Content of Collagen Fibers of the Levator Aponeurosis in Patients With Simple Congenital Blepharoptosis.

J Craniofac Surg 2020 Mar/Apr;31(2):e182-e184

Head and Neck Plastic and Cosmetic Surgery Center, Beijing Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing.

Background: The pathogenesis of congenital blepharoptosis remains controversial and most of the studies focused on the histologic changes of the levator muscle. However, thickening of the aponeurosis was reported in congenital blepharoptosis. And the thickness of the levator aponeurosis was found to be correlated with the levator function in congenital dysmyogenic blepharoptosis. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006135DOI Listing
January 2020

Unilateral Frontalis Suspension With Silicone Sling Without Levator Extirpation in Congenital Ptosis With Marcus Gunn Jaw Winking Synkinesis.

Ophthalmic Plast Reconstr Surg 2019 Dec 24. Epub 2019 Dec 24.

Ophthalmic Plastic Surgery, Orbit and Ocular Oncology, Centre for Sight, Banjara Hills, Hyderabad, India.

Purpose: To evaluate the efficacy of unilateral tarso-frontalis silicone sling without levator extirpation or disinsertion in dampening the jaw wink in patients with congenital ptosis associated with Marcus Gunn Jaw Winking synkinesis phenomenon.

Methods: Retrospective review of medical records of all patients of congenital ptosis with moderate to severe Marcus Gunn jaw winking synkinesis who underwent unilateral tarsofrontal silicone sling surgery without extirpation of the levator muscle were retrospectively reviewed. Data were collected about the pre- and the postoperative severity of the ptosis and the amount of Marcus Gunn jaw winking excursion. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001566DOI Listing
December 2019

Anterior approach levatorpexy for correction of congenital ptosis.

Can J Ophthalmol 2019 Dec 18. Epub 2019 Dec 18.

Royal Shrewsbury Hospital, Shrewsbury, United Kingdom.

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http://dx.doi.org/10.1016/j.jcjo.2019.10.013DOI Listing
December 2019

[Treatment of congenital ptosis in a low-income country: polypropylene frontalis sling at the African Institute of Tropical Ophthalmology].

J Fr Ophtalmol 2020 Feb 16;43(2):123-127. Epub 2019 Dec 16.

Ophtalmologiste à l'institut d'ophtalmologie tropicale de l'Afrique IOTA, 248, Bamako, Mali.

Introduction: Treatment of congenital ptosis is exclusively surgical; the frontalis sling method is most appropriate when the ptosis is severe, with no upper eyelid levator function. This surgery typically utilizes various materials (autologous fascia lata, silicone, nylon, or polypropylene bands, etc.). Read More

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http://dx.doi.org/10.1016/j.jfo.2019.07.008DOI Listing
February 2020

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.

Eur J Med Genet 2020 Apr 16;63(4):103826. Epub 2019 Dec 16.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

Mutations in spectrin beta non-erythrocytic 4 (SPTBN4) have been linked to congenital hypotonia, intellectual disability and motor neuropathy. Here we report on two siblings with a homozygous splice-site mutation in the SPTBN4 gene, lacking previously reported features of the disorder such as seizures, feeding difficulties, respiratory difficulties or profound intellectual disability. Our findings indicate that muscular hypotonia, myopathic facies with ptosis and axonal neuropathy can be the core clinical features in the SPTBN4 disorder and suggest that SPTBN4 mutation analysis should be considered in infants with marked axonal neuropathy. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103826DOI Listing

Surgical management of pediatric patients with congenital fibrosis of the extraocular muscles.

Jpn J Ophthalmol 2020 Jan 17;64(1):86-92. Epub 2019 Dec 17.

Department of Ophthalmology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, Japan.

Purpose: Congenital fibrosis of the extraocular muscles (CFEOM) is a rare nonprogressive disorder characterized by bilateral ptosis, with severely limited ocular motility. We report the treatment outcomes and problems in 3 cases of pediatric CFEOM in which extraocular muscle surgery was performed.

Cases: All the cases showed bilateral ptosis and a chin-up abnormal head posture (AHP). Read More

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http://dx.doi.org/10.1007/s10384-019-00707-1DOI Listing
January 2020

A New Surgical Technique Used for Correction of Congenital Blepharoptosis.

Aesthetic Plast Surg 2019 Dec 16. Epub 2019 Dec 16.

Head and Neck Plastic and Cosmetic Surgery Center, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 33 Badachu Road, Shijingshan District, Beijing, 100144, China.

Background: Blepharoptosis is defined as the drooping or lower displacement of the upper eyelids. Various kinds of surgical techniques and modifications have been introduced to improve the surgical outcomes, but the high recurrence rate and unsatisfying cosmetic results remain as a common problem.

Purpose: To solve the problem mentioned above, we came up with our new surgical technique and conducted a retrospective review to verify its effectiveness. Read More

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http://dx.doi.org/10.1007/s00266-019-01577-1DOI Listing
December 2019

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

Am J Med Genet A 2020 03 12;182(3):548-552. Epub 2019 Dec 12.

Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine, University of Miami, Coral Gables, Florida.

ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating autosomal dominant inheritance of a novel pathogenic ZMIZ1 variant, c. Read More

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http://dx.doi.org/10.1002/ajmg.a.61446DOI Listing

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.

J Clin Neurosci 2020 Feb 10;72:468-471. Epub 2019 Dec 10.

Genetic Medicine Unit, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia. Electronic address:

Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.12.007DOI Listing
February 2020

Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.

Expert Rev Cardiovasc Ther 2019 Dec;17(12):883-915

Center for Medical Genetics and Department of Cardiology, Ghent University Hospital, VASCERN HTAD European Reference Centre, Ghent, Belgium.

: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Read More

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http://dx.doi.org/10.1080/14779072.2019.1704625DOI Listing
December 2019

Transient Inverse Bell's Phenomenon Following Frontalis Sling-Suspension Ptosis Surgery: A Rare Ophthalmic Phenomenon.

Int Med Case Rep J 2019 30;12:325-327. Epub 2019 Oct 30.

Tilganga Institute of Ophthalmology, Kathmandu, Nepal.

Introduction: Inverse Bell's phenomenon is a rare ophthalmic phenomenon where downward instead of upward movement of the eyeball occurs during eyelid closure. It may be associated with peripheral facial nerve palsy, conjunctival scarring, and ptosis surgery.

Case Report: A 9-year-old male patient with right upper-lid congenital ptosis developed inverse Bell's phenomenon 2 days after frontalis sling-suspension ptosis surgery. Read More

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http://dx.doi.org/10.2147/IMCRJ.S216805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826180PMC
October 2019

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome.

J Clin Med 2019 Nov 29;8(12). Epub 2019 Nov 29.

Department of Congenital Heart Disease and Pediatric Cardiology, Deutsches Herzzentrum München, Technical University München, 80636 Munich, Germany.

Pathogenic variants in , and genes cause Loeys-Dietz syndrome, and pathogenic variants in cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes. Three expert centers performed a case-matched comparison of cardiovascular outcomes. Read More

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http://dx.doi.org/10.3390/jcm8122079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947024PMC
November 2019

Inverse Bell's phenomenon: a rare complication of levator resection surgery in a case of congenital ptosis.

BMJ Case Rep 2019 Dec 1;12(11). Epub 2019 Dec 1.

Ophthalmic Plastic Surgery Service, LV Prasad Eye Institute, Hyderabad, Telangana, India.

A 27-year-old woman with moderate congenital ptosis and a positive Marcus-Gunn jaw winking reflex underwent levator resection surgery to correct the ptosis. Preoperatively, a normal Bell's reflex was documented. Postoperatively, she developed an inverse Bell's reflex and increased symptoms of ocular surface exposure. Read More

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http://dx.doi.org/10.1136/bcr-2019-232451DOI Listing
December 2019

Congenital giant orbital eccrine hidrocystoma.

Am J Ophthalmol Case Rep 2019 Dec 6;16:100570. Epub 2019 Nov 6.

Ophthalmology Department, Security Forces Hospital, Riyadh, Saudi Arabia.

Purpose: To describe the clinical presentation, management, and histopathological results of a congenital eccrine hidrocystoma.

Observations: A 4-year-old healthy boy presented with left upper eyelid ptosis and superonasal painless mass since birth. Computed tomography showed a hypodense cystic lesion located in the extraconal orbital compartment medially. Read More

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http://dx.doi.org/10.1016/j.ajoc.2019.100570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880129PMC
December 2019

Unilateral Levator Aponeurosis Excision for Marcus Gunn Syndrome and Risk Factors of Residual Jaw Winking.

J Ophthalmol 2019 4;2019:2058047. Epub 2019 Nov 4.

Department of Ophthalmology, The Second Affiliated Hospital of Zhejiang University, College of Medicine, Hangzhou, Zhejiang, China.

Purpose: To investigate the association of ptosis, levator, and jaw winking in Marcus Gunn jaw-winking synkinesis (MGJWS), and the risk factor of preservation and outcomes of the unilateral levator excision and frontalis suspension.

Methods: Clinical features of MGJWS case series from 2011 to 2018 were retrospectively reviewed. Association between jaw winking and ptosis/levator function was statistically analyzed. Read More

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http://dx.doi.org/10.1155/2019/2058047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875030PMC
November 2019