3,118 results match your criteria Ptosis Congenital

An epidemiologic analysis of the association between eyelid disorders and ocular motility disorders in pediatric age.

Sci Rep 2022 May 25;12(1):8840. Epub 2022 May 25.

Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Aim of the study was to assess: (a) the prevalence and type of strabismus, ptosis and eyelid dynamic disorders features, (b) the prevalence of refractive errors, amblyopia and, (c) their association with ocular/systemic syndromes in a cohort of patients. This is a retrospective observational multicenter cohort study. Patients with coexisting ocular motility disorders, comitant and incomitant strabismus, ptosis and dynamic eyelid disorders who have never undergone surgery were enrolled throughout a 3-years a study period. Read More

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Silicone sling frontalis suspension for congenital ptosis: Outcome of 174 consecutive cases.

Clin Exp Ophthalmol 2022 May 24. Epub 2022 May 24.

Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Background: Frontalis suspension (FS) is the treatment of choice in congenital ptosis with poor levator function. We report the surgical outcome of FS using a double triangle configuration of silicone slings in children.

Methods: A retrospective cohort study of all pediatric patients with simple myogenic congenital ptosis repaired with FS over a 12-year period (2009-2020). Read More

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Extremely Elongated Cervix in an Adolescent Girl: Literature Review and Report of a Rare Case.

Cureus 2022 Apr 15;14(4):e24168. Epub 2022 Apr 15.

General, Colorectal, and Minimal Access Surgery, All India Institute of Medical Sciences Gorakhpur, Gorakhpur, IND.

Pelvic Organ Prolapse (POP) is defined as the descent of one or more of the pelvic organs from their normal position. This is commonly associated with multiparity, postmenopausal status, and obesity. Most of the cases present as uterine descent with or without cystocele, rectocele, or enterocele. Read More

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Basilar invagination: a tilt of the foramen magnum.

World Neurosurg 2022 May 13. Epub 2022 May 13.

Department of neurosurgery, Xuanwu hospital, Capital Medical University, Beijing, 100053, China. Electronic address:

Objectives: Congenital basilar invagination (BI) is a craniocervical deformity marked by odontoid prolapse into the skull base. The foramen magnum angle (FMA), which is formed by Chamberlain's line and McRae's line has not been fully studied. The study aimed to investigate the FMA and its relationship with other craniocervical parameters. Read More

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Segmental removal of infected frontalis sling.

Digit J Ophthalmol 2021 14;27(4):60-63. Epub 2021 Nov 14.

Department of Ophthalmology and Visual Sciences, University of Maryland School of Medicine, Baltimore, Maryland.

Congenital ptosis is one of the most common oculoplastic diseases of infancy. Where there is poor levator function, a frontalis sling is the procedure of choice. Here, we describe 2 cases of frontalis sling extrusion that were managed by segmental sling removal, with favorable results. Read More

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From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

Ital J Pediatr 2022 May 12;48(1):72. Epub 2022 May 12.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Background: Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder, whose core phenotype encompasses growth restriction, facial gestalt, intellectual disability and seizures. Nevertheless, great phenotypic variability exists due to the variable extent of the responsible 4p deletion. In addition, exome sequencing analyses, recently identified two genes, namely NSD2 and NELFA, whose loss-of-function variants contribute to a clinical spectrum consistent with atypical or partial WHS. Read More

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Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?

J Pediatr Hematol Oncol 2022 Apr 26. Epub 2022 Apr 26.

Department of Pediatrics, Hull University Teaching Hospitals, NHS Trust, Hull, UK.

Background: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with SDS and left-sided ptosis. Read More

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Combined levator and frontalis muscle advancement flaps for recurrent severe congenital ptosis.

Eye (Lond) 2022 Apr 25. Epub 2022 Apr 25.

Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.

Background: To evaluate the outcomes of combined levator resection and frontalis muscle advancement for surgical management of recurrent severe congenital ptosis.

Design: Retrospective, nonrandomized interventional case series.

Methods: A retrospective review was performed of patients who underwent combined levator resection and frontalis muscle advancement for recurrent congenital ptosis between 2017 and 2020. Read More

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Rare case of inguinal ureteral hernia in a child diagnosed by drip infusion pyelography-computed tomography.

Int J Surg Case Rep 2022 Apr 9;94:107007. Epub 2022 Apr 9.

Department of Surgery, Teikyo University Hospital, 2-11-1, Kaga, Itabashi-ku, Tokyo 173-8605, Japan.

Introduction And Importance: Inguinal hernias are the most commonly experienced disease in pediatric surgery. However, it is rare for the organs of the urinary system to prolapse as the contents of the hernia.

Case Presentation: We report a case of a 14-year-old boy with congenital paraperitoneal inguinal herniation of the ureter. Read More

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Single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients.

Taiwan J Ophthalmol 2022 Jan-Mar;12(1):82-87. Epub 2021 Apr 17.

Mayo Clinic, Rochester, MN, USA.

The purpose of this study was to describe the single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients. The single-triangle technique was used in 40 eyes of 20 patients of blepharophimosis syndrome. The center point of the lid is marked. Read More

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Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.

Mol Genet Genomic Med 2022 Apr 9:e1948. Epub 2022 Apr 9.

Child Healthcare Department, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Background: Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied among the patients indicating potential broad phenotypic spectrum. Read More

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Uterovaginal prolapse in a primigravida presenting in active first stage of labor: a case report.

J Med Case Rep 2022 Apr 8;16(1):141. Epub 2022 Apr 8.

Department of Obstetrics and Gynecology, Jimma Medical Center, Jimma University, Jimma, Ethiopia.

Background: Uterovaginal prolapse is the descent of the uterus and vagina down the birth canal toward the introitus. The occurrence of uterovaginal prolapse in a primigravida is very rare. It can cause preterm labor, fetal demise, spontaneous abortion, postpartum hemorrhage, maternal urinary complications, sepsis, and death. Read More

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Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.

Ophthalmic Plast Reconstr Surg 2022 Mar 30. Epub 2022 Mar 30.

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.

A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. Read More

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Facial Asymmetry in Children With Unilateral Congenital Ptosis.

Ophthalmic Plast Reconstr Surg 2022 Mar 30. Epub 2022 Mar 30.

Department of Ophthalmology, UT Southwestern Medical Center.

Purpose: To analyze facial asymmetry in children with unilateral congenital ptosis.

Methods: This is a retrospective review of pediatric patients undergoing ptosis repair between January 1, 2017, and December 31, 2020. Charts were reviewed to ensure a diagnosis of idiopathic unilateral congenital ptosis. Read More

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Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.

Clin Genet 2022 Mar 30. Epub 2022 Mar 30.

School of Chemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima, Thailand.

Mutations in LTBP3 are associated with Dental Anomalies and Short Stature syndrome (DASS; MIM 601216), which is characterized by hypoplastic type amelogenesis imperfecta, hypodontia, underdeveloped maxilla, short stature, brachyolmia, aneurysm and dissection of the thoracic aorta. Here we report a novel (p.Arg545ProfsTer22) and a recurrent (c. Read More

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Demographics and ocular findings in children with myasthenia.

Eye (Lond) 2022 Mar 25. Epub 2022 Mar 25.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.

Purpose: To report the demographics and ocular features of myasthenia gravis in the paediatric population.

Methods: Retrospective revision of the medical records of all patients younger than 18 years of age with myasthenia who were examined at Great Ormond Street Hospital between the 1st of January 2016 and 1st of January 2020.

Results: A total of 49 children were assessed during the 4-year period. Read More

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Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.

J Med Case Rep 2022 Mar 26;16(1):134. Epub 2022 Mar 26.

Neurology Department, Mustapha Bacha University Hospital, Benyoucef Benkhedda University, Algiers, Algeria.

Background: Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene.

Case Presentation: We present an 8-year-old Algerian female patient, who presented with a moderate phenotype with bilateral ptosis that fluctuates during the day and has occurred since birth. Read More

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Primary Cilia and Their Role in Acquired Heart Disease.

Cells 2022 03 11;11(6). Epub 2022 Mar 11.

Department of Cell Biology and Molecular Medicine, Cardiovascular Research Institute, Rutgers New Jersey Medical School, Newark, NJ 07103, USA.

Primary cilia are non-motile plasma membrane extrusions that display a variety of receptors and mechanosensors. Loss of function results in ciliopathies, which have been strongly linked with congenital heart disease, as well as abnormal development and function of most organ systems. Adults with congenital heart disease have high rates of acquired heart failure, and usually die from a cardiac cause. Read More

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Transconjunctival botulinum toxin injection into the lacrimal gland in crocodile tears syndrome.

Indian J Ophthalmol 2022 Apr;70(4):1339-1342

Consultant Ophthalmologist, Department of Ophthalmology, DHH, Sambalpur, Odisha, India.

Purpose: To determine the efficacy and safety of botulinum toxin injection into the lacrimal gland as a symptomatic treatment of crocodile tear syndrome (CTS).

Methods: Our study included six patients of unilateral gustatory hyper lacrimation following either an episode of facial paralysis or post trauma or any related surgery that posed a risk of damaging the facial nerve. Detailed history regarding previous trauma, duration of facial paralysis, previous significant surgery, and duration of steroid use following facial paralysis was noted. Read More

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Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.

Am J Nephrol 2022 21;53(4):316-324. Epub 2022 Mar 21.

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is caused mainly by pathogenic variants in PKD1 or PKD2 encoding the polycystin-1 and -2 proteins. Polycystins have shown to have an essential role in cardiac development and function in animal models. In the current study, we describe the clinical association between ADPKD and congenital heart disease (CHD). Read More

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Genotype-phenotype correlation in a newborn with de novo 3p25 deletion syndrome

Orv Hetil 2022 03 20;163(12):478-483. Epub 2022 Mar 20.

1 Magyar Honvédség Egészségügyi Központ, Központi Laboratóriumi Diagnosztikai Osztály, Klinikai Genetikai Részleg Budapest, Podmaniczky utca 111., 1062 Magyarország.

Összefoglaló. A 3p25-deletiós szindróma nagyon ritka genetikai rendellenesség, a nemzetközi szakirodalom jelenleg kevesebb mint 60 esetet ír le. A kórképre általánosan jellemző a növekedési és pszichomotoros visszamaradottság, a microcephalia, a hypotonia, a veleszületett szívfejlődési rendellenesség, a ptosis és micrognathia, de nagyon ritkán előfordul klinikai tünetek nélküli megjelenése is. Read More

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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Eur J Hum Genet 2022 05 18;30(5):611-618. Epub 2022 Mar 18.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

PAN2 encodes a subunit of a deadenylation complex with important functions in mRNA stability and post-transcriptional regulation of gene expression. A homozygous frameshift deletion in PAN2 was reported in a single affected individual with developmental delay and multiple congenital anomalies. Here, we describe five additional individuals from three unrelated families with homozygous predicted loss-of-function variants in PAN2. Read More

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A very rare cause of arthrogryposis multiplex congenita: a novel mutation in .

J Pediatr Endocrinol Metab 2022 Mar 16. Epub 2022 Mar 16.

Department of Medical Genetics, School of Medicine, Erciyes University, Kayseri, Turkey.

Objectives: Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main characteristics defined in seven patients thus far. One third of the individuals with monoallelic mutations of the gene develop isolated early-onset dystonia (DYT1 dystonia), which is inherited in an autosomal dominant fashion, with variable expressivity and incomplete penetrance. Read More

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Heart Failure Associated With Ventricular Septal Defect, Mitral Valve Prolapse, Non-stenotic Bicuspid Aortic Valve, and Patent Foramen Ovale.

Cureus 2022 Feb 8;14(2):e22020. Epub 2022 Feb 8.

Cardiology, Saint George Hospital University Medical Center, Beirut, LBN.

Ventricular septal defect (VSD) and bicuspid aortic valve (BAV) are the two most common congenital heart defects. BAV may occur sporadically or in association with other cardiac malformations. VSDs have decreased incidence in the adult population due to spontaneous closure. Read More

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February 2022

[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].

Zhonghua Yan Ke Za Zhi 2022 Mar;58(3):213-214

Taiyuan Aier Eye Hospital, Taiyuan 030000, China.

The proband presented with bilateral congenital non-progressive ptosis and limitation of eye rotation since childhood. The diagnosis was congenital fibrosis of the extraocular muscles. A new KIF21 pathogenic mutation locus was found. Read More

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[Study of an ocular ptosis in a 13th century illuminated manuscript].

P E Balcarce

Rev Neurol 2022 03;74(6):202-206

Hospital Naval Pedro Mallo, Ciudad Autónoma de Buenos Aires, Argentina.

Introduction: The finding of an eyelid ptosis in a manuscript of the xiii century raises the differential diagnosis of injury to the third cranial nerve. This nerve was not differentiated from the other oculomotors until the xvi century and only in the xix century a clinicopathological correlation was established for its paralysis.

Aim: Describe the characteristics and differential diagnoses of an eyelid ptosis illustrated in the Book of Divine Works (1173) by Hildegard of Bingen. Read More

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Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins.

J Binocul Vis Ocul Motil 2022 Apr-Jun;72(2):105-110. Epub 2022 Mar 7.

Serviço de Oftalmologia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal.

Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the gene. Clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. We report dizygotic twins with HGPPS that had absence of conjugate horizontal eye movements combined with divergent strabismus and synergistic divergence. Read More

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