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    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 Feb 3. Epub 2017 Feb 3.
    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

    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

    Measurement of Aortic Valve Coaptation and Effective Height Using Echocardiography in Patients with Ventricular Septal Defects and Aortic Valve Prolapse.
    Pediatr Cardiol 2017 Jan 21. 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 2016 Dec 28. Epub 2016 Dec 28.
    Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan; 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

    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 2016 Dec 16. 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

    The utility of margin-reflex distance in determining the type of surgical intervention for congenital blepharoptosis.
    Indian J Ophthalmol 2016 Oct;64(10):752-755
    Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
    Aims: To evaluate the utility of margin-reflex distance (MRD) as an alternative to levator function (LF) in choosing the appropriate surgical procedure for congenital blepharoptosis.

    Settings And Design: This was a retrospective, observational study.

    Subjects And Methods: Records of patients with simple (dystrophic) congenital ptosis who were operated and followed for ≥6 months postoperatively and whose outcomes were deemed as successful were evaluated in the study. Read More

    Percutaneous closure of isolated ostium secundum-type atrial septal defect in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.
    Rev Port Cardiol 2016 Dec 16;35(12):701.e1-701.e3. Epub 2016 Nov 16.
    Department of Radiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly characterized by complete or partial aplasia of the uterus and the upper part of the vagina. It is reported to be associated with cardiovascular disorders including atrial septal defect, anomalous pulmonary venous return, aortopulmonary window, pulmonary valve stenosis, mitral valve prolapse, tetralogy of Fallot, truncus arteriosus, and patent ductus arteriosus. Herein, for the first time in the medical literature, we present percutaneous closure of an isolated ostium secundum atrial septal defect in this syndrome. Read More

    Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.
    J Neuromuscul Dis 2016 Mar;3(1):111-114
    Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
    We present the clinical, morphological and molecular data of an Italian family with centronuclear myopathy, carrying a novel pathogenic mutation of BIN1 gene in heterozygous state, consistent with autosomal dominant inheritance. The proband, a 56-years-old man suffered of lower limbs myalgia and slight CK elevation. Clinical examination revealed no muscle weakness, short stature, mild symmetric eyelid ptosis, scapular winging, ankle retraction and well-developed muscles. Read More

    Tuberous breast deformity: A modified technique for single-stage correction.
    Indian J Plast Surg 2016 May-Aug;49(2):166-171
    St. Andrew's Centre for Burns and Plastic Surgery, Broomfield Hospital, Chelmsford, Essex CM1 7ET, UK.
    Introduction: Tuberous breast deformity is one of the most challenging congenital breast anomalies. Severe forms present as hypoplasia of lower medial and lateral quadrants and breast base constriction. We present a modified technique based on redistribution of breast tissue for single-stage aesthetic correction of this deformity. Read More

    Bilateral absence of the inferior rectus muscle presenting with pseudoptosis: treatment of a novel presentation.
    J AAPOS 2016 Dec 1;20(6):550-552.e1. Epub 2016 Nov 1.
    Department of Ophthalmology, Chungnam National University Hospital, Daejeon, Korea. Electronic address:
    Isolated bilateral absence of the inferior rectus muscle is a rare congenital anomaly. The usual presentation of this disorder involves apparent ocular deviations and abnormal head posture from an early age. A 45-year-old woman presented with a bilateral ptosis and lower scleral show. Read More

    Bleb incarceration following Ahmed valve surgery.
    Int Med Case Rep J 2016 20;9:329-331. Epub 2016 Oct 20.
    Department of Ophthalmology, Eastern Virginia Medical School, Norfolk, VA, USA.
    Globe luxation is a painful and potentially vision-threatening condition in which the globe becomes trapped behind the eyelids requiring physician intervention in the emergency department or eye clinic. On presentation, the patient typically complains of an inability to close their eye, severe foreign body sensation, decreased vision, and significant eye pain. Although most visual symptoms are reversible and primarily result from exposure keratopathy, optic nerve damage, and permanent vision loss can occur from repeat or prolonged episodes of globe luxation. Read More

    Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.
    Neuromuscul Disord 2016 Nov 15;26(11):789-795. Epub 2016 Aug 15.
    Department of Neurology, Hospital Universitari La Fe, Valencia, Spain.
    Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Read More

    24/7 Presence of Medical Staff in the Labor Ward; No Day-Night Differences in Perinatal and Maternal Outcomes.
    Am J Perinatol 2016 Oct 27. Epub 2016 Oct 27.
    Department of Obstetrics and Gynecology, Faculty of Medicine, University of Porto, Porto, Portugal.
    Objective The objective of this study was to assess possible day-night differences in perinatal and maternal labor outcomes in a hospital setting with no day-night differences in the presence of experienced medical staff. Design This was a retrospective study conducted over 5 years between 2008 and 2012. Setting This study was set at the obstetric delivery unit in a tertiary hospital. Read More

    Refractive error characteristics in patients with congenital blepharoptosis before and after ptosis repair surgery.
    BMC Ophthalmol 2016 Oct 8;16(1):177. Epub 2016 Oct 8.
    Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-Gu, Seoul, 137-701, Republic of Korea.
    Background: We examined the effect of surgical repair on the pattern of refractive errors in Korean patients with congenital blepharoptosis.

    Methods: We reviewed the clinical records of 54 patients with congenital blepharoptosis who attended our hospital from 2006 to 2012 and underwent a detailed refractive examination before and after ptosis repair surgery. Among them, 21 of the patients whose refractive data was available for both before and after the surgery were included in order to observe the effect of ptosis repair surgery on refractive error characteristics. Read More

    A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.
    BMC Neurol 2016 Oct 7;16(1):195. Epub 2016 Oct 7.
    Neuromuscular Disorders Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, OX3 9DS,, United Kingdom.
    Background: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. Read More

    Cosmetic and functional outcomes of frontalis suspension surgery using autologous fascia lata or silicone rods in pediatric congenital ptosis.
    Clin Ophthalmol 2016 16;10:1779-1783. Epub 2016 Sep 16.
    Department of Ophthalmology, Singapore National Eye Centre; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore; Department of Clinical Sciences, Duke-NUS Graduate Medical School, Singapore.
    Purpose: Cosmetic and functional outcomes of frontalis suspension surgery using autologous fascia lata (FL) or silicone rods (SRs) in pediatric congenital ptosis.

    Design: Retrospective case series.

    Study Subjects: Patients with congenital ptosis, aged 18 years or younger, during the period under study (2005-2011) at the Singapore National Eye Centre. Read More

    Congenital absence of anterior papillary muscle of the tricuspid valve and surgical repair with artificial chordae.
    Interact Cardiovasc Thorac Surg 2016 Sep 27. Epub 2016 Sep 27.
    Department of Cardiovascular Surgery, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
    We report the case of a 26-year old woman who underwent successful tricuspid valve repair for the absence of the anterior papillary of the tricuspid valve. Preoperative echocardiography revealed grade IV tricuspid valve regurgitation, caused by congenital absence of the anterior papillary muscle and prolapse of the anterior leaflet. Tricuspid valve repair was performed using artificial chords consisting of two polytetrafluoroethylene sutures and a concomitant ring annuloplasty. Read More

    Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.
    Medicine (Baltimore) 2016 Sep;95(37):e4550
    aDivision of Gastroenterology and Nutrition, Department of Pediatrics, Mackay Memorial Hospital bDepartment of Medicine, Mackay Medical College cDivision of Pediatric Surgery, Department of Surgery, Mackay Memorial Hospital dInstitute of Biotechnology and Department of Chemical Engineering, National Taipei University of Technology, Taipei, Taiwan.
    Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. Read More

    Baraitser-Winter cerebrofrontofacial syndrome.
    Clin Genet 2016 Sep 13. Epub 2016 Sep 13.
    West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
    Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Read More

    Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases.
    Ophthal Plast Reconstr Surg 2016 Sep 7. Epub 2016 Sep 7.
    *Orbital Plastic and Lacrimal Unit, Royal Victorian Eye and Ear Hospital, †Centre for Eye Research Australia, Department of Ophthalmology, ‡Department of Surgery, Royal Melbourne Hospital, University of Melbourne, and §Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.
    Purpose: To report 4 cases of Marcus Gunn jaw-winking synkinesis (MGJWS) in the absence of ptosis.

    Methods: A retrospective review of patients with MGJWS and congenital ptosis was compiled from the public and private subspecialty adult and pediatric oculoplastic practices of the 2 senior authors (AAM, TGH). Clinical data collected on patients with MGJWS included visual acuity, stereopsis, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs and videos, and any management undertaken. Read More

    Maximal levator resection in unilateral congenital ptosis with poor levator function.
    Br J Ophthalmol 2016 Sep 6. Epub 2016 Sep 6.
    Department of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, USA.
    Background/aims: Surgical treatments for the correction of congenital ptosis with poor levator function, including frontalis suspension or maximal levator resection, remain controversial. We evaluated the postoperative surgical and cosmetic outcomes after maximal levator resection for unilateral congenital ptosis with poor levator function.

    Methods: A retrospective, interventional case series was performed. Read More

    Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
    Neurology 2016 Oct 2;87(14):1442-1448. Epub 2016 Sep 2.
    From the Institute for Neuroscience and Muscle Research (G.L.O., M.Y., N.P., H.A.B., T.B.D., K.N.N., N.F.C., S.T.C.), Kids Research Institute, T.Y. Department of Neurology (M.M., R.W.), and Heart Centre for Children (C.T.), Children's Hospital at Westmead, Sydney; Discipline of Paediatrics and Child Health (G.L.O., M.M., H.A.B., K.N.N., N.F.C., S.T.C.), Faculty of Medicine, University of Sydney, Australia; Departments of Genetics (C.V.) and Child Neurology (J.M.F.), University of Groningen University Medical Center Groningen, the Netherlands; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology (M.L., D.G.M.), Cambridge; Department of Neurology (A.G.E.), Mayo Clinic, Rochester, MN; Murdoch Children's Research Institute (K.N.N.), Royal Children's Hospital, Victoria, Australia; and Department of Human Genetics (E.-J.K.), Radboud University Medical Center, Nijmegen, the Netherlands.
    Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3.

    Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing.

    Results: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1. Read More

    New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.
    Urolithiasis 2016 Aug 29. Epub 2016 Aug 29.
    Division of Nephrology, Department of Medical Sciences, Catholic University of the Sacred Heart, Rome, Italy.
    Medullary sponge kidney (MSK) is a congenital renal disorder. Its association with several developmental abnormalities in other organs hints at the likelihood of some shared step(s) in the embryogenesis of the kidney and other organs. It has been suggested that the REarranged during Transfection (RET) proto-oncogene and the Glial cell line-Derived Neurotrophic Factor (GDNF) gene are defective in patients with MSK, and both RET and GDNF are known to have a role in the development of the central nervous system, heart, and craniofacial skeleton. Read More

    Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.
    Int J Biol Sci 2016 6;12(9):1114-20. Epub 2016 Aug 6.
    Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. FOXC2 gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. Read More

    A standardized approach for the assessment and treatment of internationally adopted children with a previously repaired anorectal malformation (ARM).
    J Pediatr Surg 2016 Nov 5;51(11):1864-1870. Epub 2016 Aug 5.
    Center for Colorectal and Pelvic Reconstruction (CCPR), Nationwide Children's Hospital, Columbus, OH, USA. Electronic address:
    Introduction: A significant number of internationally adopted children have congenital birth defects. As a specialist center for colorectal diagnoses, we evaluate such children with an anorectal malformation (ARM) and have found that a significant number need a reoperation. Knowledge of the common complications following ARM surgery has led us to develop treatment algorithms for patients with unknown past medical and surgical history, a situation typically encountered in the adopted population. Read More

    A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.
    Cold Spring Harb Mol Case Stud 2016 Jul;2(4):a000943
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
    Mutations in FGD1 cause Aarskog-Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 mutation in a family with atypical features of AAS, specifically bilateral upper and lower limb congenital joint contractures and cardiac abnormalities. The male proband and his affected maternal uncle are hemizygous for the novel FGD1 mutation p. Read More

    Mosaic trisomy 8 detected by fibroblasts cultured of skin.
    Colomb Med (Cali) 2016 Jun 30;47(2):100-4. Epub 2016 Jun 30.
    Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.
    Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability.

    Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin.

    Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Read More

    An interatrial tunnel: a rare form of atrial septal defects.
    Echocardiography 2016 Nov 22;33(11):1781-1784. Epub 2016 Aug 22.
    Cardiac Surgery Department, Aswan Heart Centre, Magdi Yacoub Foundation, Aswan, Egypt.
    Atrial septal defects (ASDs) account for approximately 6%-10% of congenital heart defects. The well-known types of atrial septal communications are the ostium secundum, ostium primum, sinus venosus types, and coronary sinus defects. A 50-year-old female was referred for TEE for better assessment of MR severity and mechanism. Read More

    Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
    Ophthalmology 2016 Oct 9;123(10):2137-46. Epub 2016 Aug 9.
    Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:
    Purpose: To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS).

    Design: Prospective cross-sectional clinical and genetic study in a tertiary referral center.

    Participants: Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. Read More

    Levator resection with suspensory ligament of the superior fornix suspension for correction of pediatric congenital ptosis with poor levator function.
    Eye (Lond) 2016 Nov 12;30(11):1490-1495. Epub 2016 Aug 12.
    Eye Institute and Eye Center of Xiamen University, Fujian Provincial Key Laboratory of Ophthalmology and Vision Science, Xiamen, Fujian, China.
    PurposeTo evaluate the surgical outcome of levator resection with suspensory ligament of the superior fornix (SLSF) suspension in severe congenital ptosis with poor levator function (LF).Patients and methodsThe medical records of 25 patients who underwent levator resection with SLSF suspension between March 2011 and January 2013 were retrospectively reviewed. All of the patients had severe congenital ptosis (>4 mm) and poor LF (<4 mm). Read More

    STRUCTURAL HEART ANOMALIES (REVIEW).
    Georgian Med News 2016 Jun(255):66-77
    National Pyrohov Memorial Medical University, Internal Medicine Department N1, Vinnitsa, Ukraine.
    Structural heart anomalies (SHA) are congenital abnormalities of cardiovascular system, characterized by various anatomical departures of heart and great vessels from normal conditions. SHA are a part of connective tissue dysplasia syndrome (CTDS), one of the most common congenital autosomal-dominant diseases in people of young and middle age. The most common SHA are a mitral valve prolapse, abnormal chords of left ventricle and their combinations. Read More

    Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.
    Neurology 2016 Aug 20;87(8):799-805. Epub 2016 Jul 20.
    From the Department of Neurology (H.D., F.D., Y.P., P.S.-O.), Faculty of Medicine, Istanbul University; Department of Molecular Biology and Genetics (Ö.A., A.T.), Boğaziçi University, Istanbul, Turkey; Children's National Medical Center (S.Ç.), Research Center for Genetic Medicine, Washington, DC; Department of Pediatrics, Institute for Human Genetics, and Center for Molecular Medicine, University Hospital Cologne; Institute of Clinical Molecular Biology (A.F., G.H.-S.), Christian-Albrechts-University of Kiel; Institute of Biochemistry (N.E., S.H.), Institute of Neuropathology (F.C., R.S.), and Department of Ophthalmology (U.S.-S.), Friedrich-Alexander-University of Erlangen-Nuremberg; and Center for Biochemistry, Institute of Biochemistry I, Medical Faculty (C.S.C.), University of Cologne, Germany.
    Objective: To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin, the response to salbutamol in one patient, and the neuromuscular endplate pathology in a knock-in mouse model for recessive desminopathy.

    Methods: We performed clinical investigations in the patients, genetic studies for linkage mapping, exome sequencing, and qPCR for transcript quantification, assessment of efficacy of (3-month oral) salbutamol administration by muscle strength assessment, 6-minute walking test (6MWT), and forced vital capacity, analysis of neuromuscular endplate pathology in a homozygous R349P desmin knock-in mouse by immunofluorescence staining of the hind limb muscles, and quantitative 3D morphometry and expression studies of acetylcholine receptor genes by quantitative PCR.

    Results: Both patients had infantile-onset weakness and fatigability, facial weakness with bilateral ptosis and ophthalmoparesis, generalized muscle weakness, and a decremental response over 10% on repetitive nerve stimulation. Read More

    Surgical management of third nerve palsy.
    Oman J Ophthalmol 2016 May-Aug;9(2):80-6
    Department of Medicine (Cardiology), Shri Guru Ram Rai Institute of Medical and Health Sciences, Dehradun, Uttarakhand, India.
    Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell's phenomenon, superior oblique (SO) overaction, and lateral rectus (LR) contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. Read More

    Evaluation of the Surgical Treatment for Congenital Blepharoptosis Using Mustarde's Modified Method.
    Pol Przegl Chir 2016 May;88(3):155-9
    Unlabelled: The aim of the study was evaluation of the results of surgical treatment of congenital blepharoptosis (CBP) using Mustarde's modified method.

    Material And Methods: Between 2005-2014 forty eight children with CBP underwent surgical correction of CBP by Mustarde's modified method. Basing on the results of ophthalmic and orthoptic examination, and standard measurements, we estimated postoperative difference in the position and symmetry of the upper eyelids, and postoperative complications in our patients. Read More

    Computed tomography coronary angiography diagnosis of single right coronary artery with congenital absence of left coronary artery system equivalents.
    Indian J Radiol Imaging 2016 Apr-Jun;26(2):198-200
    Department of Cardiology, MediCiti Hospital, Hyderabad, Telangana, India.
    The present case report is computed tomography (CT) coronary angiographic depiction of an exceedingly rare entity-single right coronary artery arising from the right sinus of Valsalva with the absence of equivalent left coronary artery system branches and associated mitral valve prolapse. Even though a statistical rarity, it is potentially fatal and can cause myocardial ischemia, sudden cardiac death, and warrants immediate clinical attention. Further, the report reveals the decisive role of CT coronary angiogram in the diagnosis of such rare entities, in contrast to catheter angiography, which may be inconclusive. Read More

    [CLINICAL STUDY ON ZYGOMATIC SPINDLE-SHAPED OSTEOTOMY AND INTERNAL PUSH OF TITANIUM SCREW ANCHOR IN TREATMENT OF PROMINENT MALAR].
    Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 2016 Apr;30(4):453-6
    Objective: To explore the effectiveness of the zygomatic spindle-shaped osteotomy and internal push of titanium screw anchor for prominent malar.

    Methods: Between July 2011 and January 2015, 58 patients with prominent malar underwent zygomatic spindle-shaped osteotomy and internal push of titanium screw anchor. There were 3 males and 55 females, aged 18-33 years (mean, 23 years). Read More

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