2,986 results match your criteria Ptosis Congenital

Pelvic Renal Ectopia: Unusual Position Abnormality.

Cureus 2021 Apr 8;13(4):e14365. Epub 2021 Apr 8.

Endocrinology, University of Antioquia, Medellín, COL.

Pelvic renal ectopia is a congenital anomaly secondary to poor renal migration to the lower back. Usually, these pathologies are of asymptomatic course, therefore its finding is usually fortuitous during radiological examinations for other causes or in work-up of the infrequent symptomatic cases characterized by the occurrence of recurrent infections or symptoms of obstructive uropathy. The objective of this report is to present a case of a 37-year-old female with the unusual manifestation of left pelvic renal ectopia. Read More

View Article and Full-Text PDF

Congenital Uterine Anomaly and Pelvic Organ Prolapse: A Rare Case of Pelvic Organ Prolapse in a Complete Bicornuate Uterus with Successful Pregnancy Outcomes Undiagnosed until the Time of Sacrocolpopexy.

Gina Nam Sa Ra Lee

J Menopausal Med 2021 Apr;27(1):32-36

Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Müllerian development anomalies (MDAs) are most commonly diagnosed in the reproductive period. A bicornuate uterus is the result of a fusion defect of the Müllerian ducts, causing an abnormal fundal outline. Most of the cases are diagnosed early in life and present with obstetrical complications, such as recurrent pregnancy loss, preterm birth, intrauterine growth restriction, placental abruption, and cervical incompetence. Read More

View Article and Full-Text PDF

Congenital ptosis repair using posterior approach levator plication

Orv Hetil 2021 05 2;162(18):705-711. Epub 2021 May 2.

1 Semmelweis Egyetem, Általános Orvostudományi Kar, Szemészeti Klinika, Budapest, Mária utca 39., 1085.

Összefoglaló. Bevezetés: Szemhéjcsüngésnek (ptosis vagy blepharoptosis) nevezzük azt az állapotot, amikor a felső szemhéj abnormálisan alacsony pozícióban van. A szemhéjcsüngésnek lehetnek veleszületett és szerzett formái. Read More

View Article and Full-Text PDF

A review of acquired blepharoptosis: prevalence, diagnosis, and current treatment options.

Eye (Lond) 2021 Apr 29. Epub 2021 Apr 29.

Massachusetts College of Pharmacy and Health Sciences, Worcester, MA, USA.

Blepharoptosis (ptosis) is among the most common disorders of the upper eyelid encountered in both optometric and ophthalmic practice. The unilateral or bilateral drooping of the upper eyelid that characterises ptosis can affect appearance and impair visual function, both of which can negatively impact quality of life. While there are several known forms of congenital ptosis, acquired ptosis (appearing later in life, due to a variety of causes) is the predominant form of the condition. Read More

View Article and Full-Text PDF

Pediatric ocular motor cranial nerve palsy: Demographics and etiological profile.

Indian J Ophthalmol 2021 May;69(5):1142-1148

Department of Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Aditya Birla Sankara Nethralaya, Kolkata, (A Unit of Medical Research Foundation, Chennai, Tamil Nadu, India), India.

Purpose: The aim of this study was to describe epidemiological and clinical characteristics of pediatric ocular motor cranial nerve palsy.

Methods: This was a retrospective record-based study, carried out at a tertiary eye care hospital in India, between January 2011 and January 2015 and included patients up to 16 years of age at the time of presentation, diagnosed with third, fourth, sixth nerve palsy or a combination of these with other cranial nerve palsy. Data analyzed included demographic details, etiologies, presence or absence of amblyopia, relevant investigations, and management. Read More

View Article and Full-Text PDF

Native tricuspid valve infective endocarditis with : An unusual complication post spinal epidural injection - Case report and literature review.

IDCases 2021 31;24:e01097. Epub 2021 Mar 31.

Department of Cardiothoracic Surgery, Heart Hospital, Hamad Medical Corporation, Qatar.

Infective Endocarditis (IE) is a very rare complication following spinal epidural injection and requires high index of suspicion for early diagnosis and effective management. is a coagulase negative staphylococcus (CoNS) that, unlike other CoNS, may result in aggressive form of native valve infective endocarditis (IE) mimicking IE caused by S aureus. Surgical intervention is usually needed to control infection in most cases of IE. Read More

View Article and Full-Text PDF

Challenge of diagnosing splenic torsion in a paediatric patient with gastroschisis.

BMJ Case Rep 2021 Apr 21;14(4). Epub 2021 Apr 21.

Department of Pediatrics, Mercer University School of Medicine, Macon, Georgia, USA.

Gastroschisis is an uncommon congenital defect of the abdominal wall resulting in intestinal prolapse, most commonly associated with short gut syndrome or bowel obstruction. Wandering spleen, movement of the spleen due to the underdevelopment of splenic ligaments, has a prevalence of 0.25% and is asymptomatic in 15% of paediatric cases. Read More

View Article and Full-Text PDF

"Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis.

Clin Exp Ophthalmol 2021 Apr 21. Epub 2021 Apr 21.

Division of Ophthalmology, Oculoplastic and Orbital Surgery Service, The Children's Hospital of Philadelphia and The Edwin and Fannie Gray Hall, Center for Human Appearance, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Background: To determine the frequency of isolated blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis.

Methods: Retrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's Hospital of Philadelphia during a 12-year-period (2009-2020) were reviewed for medical history, clinical examination findings and results of genetic analyses. Read More

View Article and Full-Text PDF

Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.

Am J Ophthalmol Case Rep 2021 Jun 17;22:101073. Epub 2021 Mar 17.

Department of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.

Purpose: To describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation.

Observations: Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient. Read More

View Article and Full-Text PDF

Laparoscopic sacrocolpopexy with a mesh for sigmoid neovaginal prolapse: a case report.

J Pediatr Adolesc Gynecol 2021 Apr 14. Epub 2021 Apr 14.

Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan 250012, Shandong Province, China. Electronic address:

Background: Creating a functional neovagina is a practical therapeutic intervention for women with congenital vaginal agenesis and sexual needs. Although the incidence of neovaginal prolapse (NP) is low, it is inconvenient for patients and is a challenging problem for gynecologists.

Case: A 32-year-old woman who had undergone transabdominal sigmoid vaginoplasty 10 years previously at another hospital visited our clinic for evaluation and treatment of NP. Read More

View Article and Full-Text PDF

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Am J Med Genet A 2021 Apr 3. Epub 2021 Apr 3.

Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

Smith-Magenis syndrome (SMS) is a genetic disorder characterized by multiple congenital anomalies, sleep disturbance, behavioral impairment, and intellectual disability. Its genetic cause has been defined as an alteration in the Retinoic Acid-Induced 1 gene. Cardiac anomalies have been reported since the first description of this condition in patients with 17p11. Read More

View Article and Full-Text PDF

Myocardial TGFβ2 Is Required for Atrioventricular Cushion Remodeling and Myocardial Development.

J Cardiovasc Dev Dis 2021 Mar 2;8(3). Epub 2021 Mar 2.

Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC 29209, USA.

Among the three transforming growth factor beta (TGFβ) ligands, TGFβ2 is essential for heart development and is produced by multiple cell types, including myocardium. Heterozygous mutations in in patients of connective tissue disorders result in congenital heart defects and adult valve malformations, including mitral valve prolapse (MVP) with or without regurgitation. germline knockout fetuses exhibit multiple cardiac defects but the role of myocardial-TGFβ2 in heart development is yet to be elucidated. Read More

View Article and Full-Text PDF

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Eur J Med Genet 2021 Mar 30;64(6):104210. Epub 2021 Mar 30.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address:

Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Read More

View Article and Full-Text PDF

Improved Eyelid Muscle Tension Balance With Refined Frontalis Muscle Flap Suspension in the Treatment of Severe Ptosis.

Ophthalmic Plast Reconstr Surg 2021 Mar 24. Epub 2021 Mar 24.

Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China Sydney Hospital & Sydney Eye Hospital, Sydney, Australia.

Background: The tension balance of the upper eyelid following ptosis repair is crucial to a successful postoperative outcome. To improve on existing surgical techniques, the authors developed a new refined frontalis muscle flap suspension (FMFS) for severe ptosis repair and explored the balancing effect between the orbicularis muscle and frontalis muscle following surgery.

Methods: Forty-three patients (47 eyes) with a mean age of 6. Read More

View Article and Full-Text PDF

Anterior approach levator plication for congenital ptosis, absorpable versus non absorpable sutures.

Eur J Ophthalmol 2021 Mar 25:11206721211005320. Epub 2021 Mar 25.

Zagazig University, Zagazig, Egypt.

Purpose: To compare the efficacy of two different suture types in levator plication for correction of congenital ptosis.

Subjects And Methods: Prospective comparative interventional randomized study involving 42 eyes of 42 patients aged more than 6 years with congenital ptosis and good levator action. The exclusion criteria were as follows: bilateral ptosis, history of previous surgery, fair or poor levator action, and associated other ocular diseases. Read More

View Article and Full-Text PDF

MASP1-related 3MC syndrome in a patient from Turkey.

Am J Med Genet A 2021 Mar 25. Epub 2021 Mar 25.

Department of Medical Genetics, University of Health Sciences, Kanuni Training and Research Hospital, Trabzon, Turkey.

3MC syndrome is a rare condition manifesting with typical facial appearance, postnatal growth deficiency, skeletal manifestations, and genitourinary tract anomalies. 3MC is caused by biallelic pathogenic variants in MASP1, COLEC11, or COLEC10. Here, we report an affected subject of Kurdish origin from Turkey presenting with facial dysmorphisms, such as, hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, umbilical hernia, and caudal appendage. Read More

View Article and Full-Text PDF

[Unilateral ptosis in children].

Rev Prat 2020 Nov;70(9):993-996

Service d'ophtalmologie, Hopital Necker Enfants malades, APHP, Université de Paris, INSERM UMRS1138 team 17 Universite Sorbonne Paris Cite, Centre de Références des Maladies Rares en Ophtalmologie OPHTARA.

Unilateral ptosis in children. Childhood ptosis is a common condition, mostly congenital, and of varying severity. It is characterized by a lowering of the upper eyelid. Read More

View Article and Full-Text PDF
November 2020

Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.

Clin Neurol Neurosurg 2021 Apr 2;203:106591. Epub 2021 Mar 2.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019, Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Introduction: Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise.

Case Report: We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Read More

View Article and Full-Text PDF

The prevalence of non-syndromic orofacial clefts and associated congenital heart diseases of a tertiary hospital in Riyadh, Saudi Arabia.

Saudi Dent J 2021 Mar 19;33(3):137-142. Epub 2019 Dec 19.

College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Background: Orofacial clefts are considered one of the most common birth defects and are frequently associated with other malformations. Congenital heart disease is one of the most prevalent congenital malformation.

Objective: To investigate the prevalence of congenital heart diseases associated with non-syndromic orofacial clefts in the Saudi population. Read More

View Article and Full-Text PDF

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Int J Mol Sci 2021 Feb 20;22(4). Epub 2021 Feb 20.

Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.

Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result of homozygous or compound heterozygous variants in the ECEL1 gene. Here, we report two patients of Sardinian origin harboring a new intronic homozygous variant in ECEL1 (c. Read More

View Article and Full-Text PDF
February 2021

A Comprehensive Approach to Asian Upper Eyelid Ptosis Correction: The Levator Musculo-Aponeurotic Junction Formula.

Aesthet Surg J 2021 Feb 28. Epub 2021 Feb 28.

The Centre for Facial Plastic Surgery, Toorak, Victoria, Australia.

Background: The unique anatomy of the Asian upper eyelid requires specific adaptation to the levator advancement technique for ptosis correction to achieve predictable and reproducible outcomes.

Objectives: The levator musculo-aponeurotic junction was used as our key landmark. With a formula that we developed, the location of fixation relative to this landmark can be predicted preoperatively. Read More

View Article and Full-Text PDF
February 2021

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome.

Front Pediatr 2021 10;9:618059. Epub 2021 Feb 10.

Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.

The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. Read More

View Article and Full-Text PDF
February 2021

An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome.

Neurol India 2021 Jan-Feb;69(1):181-183

Department of Pediatric Neurology, Izmir KatipCelebi University, Afyon, Turkey.

The chromosome 22q11.2 region is highly susceptible to both microdeletions and microduplications that have been known to be responsible for multiple congenital anomaly disorders. We describe a patient of 22q11. Read More

View Article and Full-Text PDF

The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies.

Neurol India 2021 Jan-Feb;69(1):177-180

Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece.

Blepharoptosis (ptosis) is classified, based on etiology, into mechanical, cerebral, neurogenic, neuromuscular, myogenic, and due to miscellaneous causes. Primary myopathic diseases are rare causes of blepharoptosis and many patients with myogenic ptosis undergo a series of extensive investigations before a myopathy is being considered. In this study, we report four patients with different myopathic disorders who had blepharoptosis as a presenting symptom of their disease. Read More

View Article and Full-Text PDF

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.

Eur J Paediatr Neurol 2021 Mar 16;31:54-60. Epub 2021 Feb 16.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India. Electronic address:

Three unrelated girls, all born to consanguineous parents had respiratory distress, severe hypotonia at birth along with prominent fatigable muscle weakness and characteristic myopathic facies. In addition, patient 1 had fatigable ptosis, ophthalmoparesis and profound bulbar weakness and required nasogastric feeding from birth. A feeding gastrostomy was inserted at 9 months of age. Read More

View Article and Full-Text PDF

Surgical correction of severe congenital ptosis using a modified frontalis muscle advancement technique: A single-arm trial.

Eur J Ophthalmol 2021 Feb 24:1120672121995754. Epub 2021 Feb 24.

Tianjin Eye Hospital, Tianjin Key Lab of Ophthalmology and Visual Science, Nankai University Affiliated Eye Hospital, Clinical College of Ophthalmology Tianjin Medical University, Tianjin Eye Institute, Tianjin, China.

Purpose: To describe our experience with a modified frontal muscle advancement flap to treat patients with severe congenital ptosis.

Methods: Analysis of the clinical charts of 154 patients who underwent a modified frontal muscle advancement flap. The FM was exposed by a crease incision. Read More

View Article and Full-Text PDF
February 2021

Postoperative Clinical Outcomes Using Standard Variables Following Levator-Mullerectomy Advancement Blepharoptosis Surgery.

J Craniofac Surg 2021 Feb 18. Epub 2021 Feb 18.

Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, TN.

Abstract: The Muller muscle-conjunctival resection is a common technique used to treat blepharoptosis, but there is variability with the target surgical resection and expected postoperative outcomes measured by marginal reflex distance-1 (MRD1). A Levator-Mullerectomy is a novel surgical approach described by Morris et al to incorporate the levator palpebrae superioris in the same incision as the classic Muller muscle-conjunctival resection in the treatment of blepharoptosis. This a retrospective study of patients who underwent Levator-Mullerectomy for ptosis repair showing the clinical outcomes based on MRD1. Read More

View Article and Full-Text PDF
February 2021

Surgical repair of mitral valve bileaflet prolapse in pediatric patients.

J Card Surg 2021 Jun 18;36(6):1858-1863. Epub 2021 Feb 18.

Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Pediatric mitral regurgitation (MR), especially with bileaflet prolapse, is relatively rare, of high complexity, and frequently associated with other congenital cardiac abnormalities. It remains a major therapeutic challenge for surgeons. This study reports our experience of surgical treatment of this mitral disease and midterm follow-up results. Read More

View Article and Full-Text PDF

Neonatal diagnosis of Marcus Gunn jaw-winking syndrome.

Clin Case Rep 2021 Feb 20;9(2):866-869. Epub 2020 Dec 20.

Neonatal Intensive Care Unit Pescara Public Hospital Pescara Italy.

This report highlights the importance for neonatologists/pediatricians of considering Marcus Gunn jaw-winking syndrome among differential diagnoses of ptosis. A detailed clinical assessment is crucial to promptly recognize and appropriately manage it. Read More

View Article and Full-Text PDF
February 2021