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    Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
    Am J Med Genet A 2017 Apr 19. Epub 2017 Apr 19.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. Read More

    Decreased cohesin in the brain leads to defective synapse development and anxiety-related behavior.
    J Exp Med 2017 Apr 13. Epub 2017 Apr 13.
    Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Osaka 565-0871, Japan
    Abnormal epigenetic regulation can cause the nervous system to develop abnormally. Here, we sought to understand the mechanism by which this occurs by investigating the protein complex cohesin, which is considered to regulate gene expression and, when defective, is associated with higher-level brain dysfunction and the developmental disorder Cornelia de Lange syndrome (CdLS). We generated conditional Smc3-knockout mice and observed greater dendritic complexity and larger numbers of immature synapses in the cerebral cortex of Smc3(+/-) mice. Read More

    Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders.
    J Allergy Clin Immunol 2017 Apr 6. Epub 2017 Apr 6.
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:
    Background: Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is curative but co-administered chemo- or radio-therapy is damaging due to systemic radio-sensitivity. We collected HCT outcome data for Nijmegen Breakage syndrome (NBS), DNA ligase IV deficiency (LIG4), Cernunnos-XLF deficiency and ataxia-telangiectasia. Read More

    Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
    J Med Case Rep 2017 Apr 2;11(1):88. Epub 2017 Apr 2.
    Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
    Background: Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Read More

    mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
    Int J Mol Sci 2017 Feb 23;18(3). Epub 2017 Feb 23.
    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
    Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Read More

    Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
    Am J Med Genet A 2017 May 12;173(5):1172-1185. Epub 2017 Feb 12.
    Cornelia de Lange Syndrome Foundation, Avon, Connecticut.
    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Read More

    Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
    Epilepsia 2017 Apr 6;58(4):565-575. Epub 2017 Feb 6.
    The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom.
    Objective: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Read More

    'Our nurse has been an amazing advocate for our non-verbal child'.
    • Authors:
    Nurs Stand 2017 Feb;31(23):65
    My son Conor is an 11-year-old boy with a rare genetic condition called Cornelia de Lange Syndrome and complex needs. We have encountered many medical and nursing staff on our journey, but learning disability community nurse Lisa Harris, who works for the Western Health and Social Care Trust in Derry, Northern Ireland, stands out. Read More

    Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.
    J Autism Dev Disord 2017 Jan 31. Epub 2017 Jan 31.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
    Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. Read More

    Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.
    Curr Opin Psychiatry 2017 Mar;30(2):92-96
    aDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USAbJinnah Sindh Medical University, Karachi, PakistancDepartment of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
    Purpose Of Review: Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. Read More

    Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
    Hum Genet 2017 Mar 24;136(3):307-320. Epub 2017 Jan 24.
    Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Read More

    Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
    Am J Med Genet A 2017 Feb 7;173(2):414-420. Epub 2016 Nov 7.
    Division of Cardiology, Seattle Children's Hospital, Seattle, Washington.
    Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. Read More

    [Cardiac rhythm disturbances in the children with hearing pathology].
    Vestn Otorinolaringol 2016 ;81(6):32-36
    National Research Centre for Audiology and Hearing Rehabilitation, Russian Medico-Biological Agency, Moscow, Russia, 117513.
    The aim of the study was to identify cardiac arrhythmias in children presenting with hearing impairments. Hearing loss in the children can occur concurrently with the disturbances of the cardiac rhythms. The detection of this pathology at the diagnostic stage is as important as it is at the stage of rehabilitation including surgical one. Read More

    Pharmacological and surgical therapy for the central giant cell granuloma: A long-term retrospective cohort study.
    J Craniomaxillofac Surg 2017 Feb 9;45(2):232-243. Epub 2016 Dec 9.
    Department of Oral and Maxillofacial Surgery (Head: Prof. J. de Lange), Academic Medical Center, Academic Center Dentistry Amsterdam and University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. Electronic address:
    Purpose: This is a retrospective cohort study of patients with a central giant cell granuloma (CGCG) treated at a single center to assess and compare the different surgical and non-surgical approaches.

    Material And Methods: A cohort with a single histologically proven non-syndrome-related CGCG was selected and reviewed. Patients were allocated to group I (surgery), group II (pharmacotherapy), and group III (pharmacotherapy and surgery). Read More

    Coronal clival cleft in CHARGE syndrome.
    Neuroradiol J 2017 Jan 1:1971400916678248. Epub 2017 Jan 1.
    1 Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC, USA.
    CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. Read More

    Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.
    Neuron 2017 Jan 29;93(2):348-361. Epub 2016 Dec 29.
    The Francis Crick Institute, Mill Hill Laboratory, The Ridgeway, London NW7 1AA, UK. Electronic address:
    Mutations in NIPBL are the most frequent cause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological defects, including intellectual disability and seizures. How NIPBL mutations affect brain development is not understood. Here we identify Nipbl as a functional interaction partner of the neural transcription factor Zfp609 in brain development. Read More

    Recoarctation After Norwood I Procedure for Hypoplastic Left Heart Syndrome: Impact of Patch Material.
    Ann Thorac Surg 2017 Feb 23;103(2):617-621. Epub 2016 Dec 23.
    Department of Cardiovascular Surgery, German Heart Centre Munich, Technische Universität München, Munich, Germany.
    Background: The development of recoarctation after the Norwood I procedure is a known complication in patients with hypoplastic left heart syndrome (HLHS).

    Methods: We reviewed data on 194 consecutive patients with HLHS who underwent the Norwood I procedure between 2000 and 2015. All patients who survived until the second stage of the procedure were included. Read More

    Hemodynamic monitoring in the critically ill: an overview of current cardiac output monitoring methods.
    F1000Res 2016 16;5. Epub 2016 Dec 16.
    ZNA Stuivenberg, Lange Beeldekensstraat 267, B-2060 Antwerpen, Belgium.
    Critically ill patients are often hemodynamically unstable (or at risk of becoming unstable) owing to hypovolemia, cardiac dysfunction, or alterations of vasomotor function, leading to organ dysfunction, deterioration into multi-organ failure, and eventually death. With hemodynamic monitoring, we aim to guide our medical management so as to prevent or treat organ failure and improve the outcomes of our patients. Therapeutic measures may include fluid resuscitation, vasopressors, or inotropic agents. Read More

    Behaviour in Cornelia de Lange syndrome: a systematic review.
    Dev Med Child Neurol 2017 Apr 18;59(4):361-366. Epub 2016 Dec 18.
    Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.
    Aim: Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current understanding of behaviour in CdLS.

    Method: A systematic search was performed for articles published between January 1946 and December 2015 evaluating autism, self-injury, and/or cognition in CdLS. Read More

    Off-loading strategies in diabetic foot syndrome-evaluation of different devices.
    Int Orthop 2017 Feb 9;41(2):239-246. Epub 2016 Dec 9.
    Department of Orthopaedic Surgery, Asklepios Klinikum Bad Abbach, Medical Centre University of Regensburg, Kaiser-Karl-V.-Allee 3, 93077, Bad Abbach, Germany.
    Introduction: Diabetic foot syndrome is one of the most dreaded complications in diabetes mellitus. The purpose of this study was to assess the value of different offloading devices compared to walking in barefoot condition and in normal shoes both in healthy subjects and in patients with diabetes and neuropathy.

    Methods: Twenty patients with diabetes and polyneuropathy and ten healthy probands were included. Read More

    A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
    Clin Genet 2017 Apr 24;91(4):647-649. Epub 2016 Nov 24.
    Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
    In a patient with CdLS (IV.16) we identifed a novel single basepair deletion (c.704delG) in RAD21, which encodes a cohesin pathway protein. Read More

    An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
    Am J Med Genet A 2017 Mar 21;173(3):749-752. Epub 2016 Nov 21.
    Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
    We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Read More

    A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder.
    Am J Intellect Dev Disabil 2016 Nov;121(6):465-486
    Joanna Moss, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, and Institute of Cognitive Neuroscience, University College London; Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, and Chris Oliver, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham.
    Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12-18yrs; >18yrs) comparisons of SQID scores were conducted. Read More

    Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
    Protein Sci 2016 Nov 16;25(11):1965-1976. Epub 2016 Sep 16.
    Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, Philadelphia, PA, 19104-6323.
    Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. CdLS spectrum disorders are referred to as cohesinopathies, with ∼70% of patients having a mutation in a gene encoding a core cohesin protein (SMC1A, SMC3, or RAD21) or a cohesin regulatory protein (NIPBL or HDAC8). Notably, the regulatory function of HDAC8 in cohesin biology has only recently been discovered. Read More

    De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
    Clin Genet 2016 Nov 14;90(5):413-419. Epub 2016 Feb 14.
    Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
    De novo missense mutations and in-frame coding deletions in the X-linked gene SMC1A (structural maintenance of chromosomes 1A), encoding part of the cohesin complex, are known to cause Cornelia de Lange syndrome in both males and females. For a long time, loss-of-function (LoF) mutations in SMC1A were considered incompatible with life, as such mutations had not been reported in neither male nor female patients. However, recently, the authors and others reported LoF mutations in females with intellectual disability (ID) and epilepsy. Read More

    Exercise, fasting, and mimetics: toward beneficial combinations?
    FASEB J 2017 01 11;31(1):14-28. Epub 2016 Oct 11.
    Department of Environmental, Biological, and Pharmaceutical Sciences and Technologies, Second University of Naples, Caserta, Italy;
    Obesity and type 2 diabetes are associated disorders that involve a multiplicity of tissues. Both fasting and physical exercise are known to counteract dyslipidemia/hyperglycemia. Skeletal muscle plays a key role in the control of blood glucose levels, and the metabolic changes and related signaling pathways in skeletal muscle induced by fasting overlap with those induced by exercise. Read More

    A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
    Mol Genet Genomic Med 2016 Sep 14;4(5):557-67. Epub 2016 Jul 14.
    Department of Cardiovascular SurgeryDivision of Experimental SurgeryGerman Heart Center Munich at the Technical University of MunichMunichGermany; DZHK (German Center for Cardiovascular Research) - partner site Munich Heart AllianceMunichGermany.
    Background: The Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. Read More

    Early detection and integrated care for adolescents and young adults with severe psychotic disorders: rationales and design of the Integrated Care in Early Psychosis Study (ACCESS III).
    Early Interv Psychiatry 2016 Sep 12. Epub 2016 Sep 12.
    Psychosis Centre, Department of Psychiatry and Psychotherapy, Centre for Psychosocial Medicine, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany.
    Aim: The Integrated Care in Early Psychosis (ACCESS III) Study examined the efficacy and cost-effectiveness of a combined intervention consisting of strategies to improve early detection and quality of care (integrated care including therapeutic assertive community treatment) in adolescents and young adults in the early phase of a severe psychotic disorder from 2011 to 2014.

    Methods: This is a prospective, single-centre, 1-year cohort study comparing an intervention condition (early detection plus integrated care, n = 120) to the historical control condition (standard care, SC, n = 105) for adolescents and young adults aged 12-29 years suffering from a severe, early-phase psychotic disorder (i.e. Read More

    The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency.
    PLoS Biol 2016 Sep 8;14(9):e2000494. Epub 2016 Sep 8.
    The Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
    Congenital heart defects (CHDs) affect 2%-3% of newborns and remain challenging clinically. There is an ongoing project to elucidate the causes of CHDs, focusing primarily on genetics as dictated by the epidemiology. In a paper published in this issue, Santos and colleagues describe studies of Cornelia de Lange syndrome-associated secundum atrial septal defects (ASDs) caused by NIPBL mutations, undertaken with a targeted trapping allele in mice. Read More

    Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.
    PLoS Biol 2016 Sep 8;14(9):e2000197. Epub 2016 Sep 8.
    Department of Developmental and Cell Biology, University of California, Irvine, California, United States of America.
    Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here, we use a conditional/invertible genetic strategy to identify the cell lineage(s) responsible for the development of heart defects in a Nipbl-deficient mouse model of Cornelia de Lange Syndrome, in which global yet subtle transcriptional dysregulation leads to development of atrial septal defects (ASDs) at high frequency. Using an approach that allows for recombinase-mediated creation or rescue of Nipbl deficiency in different lineages, we uncover complex interactions between the cardiac mesoderm, endoderm, and the rest of the embryo, whereby the risk conferred by genetic abnormality in any one lineage is modified, in a surprisingly non-additive way, by the status of others. Read More

    Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.
    Clin Genet 2017 May 10;91(5):661-671. Epub 2016 Oct 10.
    Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
    Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). Read More

    Event-related potentials and cognition in Parkinson's disease: An integrative review.
    Neurosci Biobehav Rev 2016 Dec 3;71:691-714. Epub 2016 Aug 3.
    Department of Neurology, Hannover Medical School, Hannover, Germany.
    Cognitive impairment is a common non-motor symptom of Parkinson's disease (PD), but the nature of cognitive changes varies considerably between individuals. According to the dual-syndrome hypothesis, one cluster of patients is characterized by deficits in executive function that may be related to fronto-striatal dysfunction. Other patients primarily show non-frontal cognitive impairments that progress rapidly to PD dementia (PDD). Read More

    An Adverse Reaction in the Pediatric Sleep Laboratory.
    Can Respir J 2016 29;2016:9712579. Epub 2016 Mar 29.
    Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada M5G IX8; University of Toronto, Toronto, ON, Canada.
    We present a case of a 15-month-old boy with Cornelia de Lange Syndrome (NIPBL gene mutation). On a PSG, central sleep apnea (central apnea-hypopnea index of 19/hour) and nocturnal hypoventilation (transcutaneous CO2 > 50 mmHg for 53% of the night) were found. A positive pressure initiation study was aborted because the patient developed a serious adverse reaction. Read More

    Improvement in hearing loss over time in Cornelia de Lange syndrome.
    Int J Pediatr Otorhinolaryngol 2016 Aug 13;87:203-7. Epub 2016 Jun 13.
    Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Department of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address:
    Objectives: Patients with Cornelia de Lange Syndrome (CdLS) are reported to have conductive (CHL) and sensorineural hearing loss (SNHL), but there is little information pertaining to the progression of hearing loss over time. The goal of this study was to examine the prevalence of CHL and SNHL in adults and children with CdLS and look for changes in SNHL over time.

    Methods: Retrospective chart review of patients with CdLS presenting to a CdLS clinic was conducted. Read More

    Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy.
    Indian J Anaesth 2016 Jun;60(6):424-6
    Department of Thoracic surgery, Medanta - The Medicity, Gurgaon, Haryana, India.
    Long QT syndrome (LQTS) is an arrhythmogenic cardiac disorder resulting from the malfunction of cardiac ion channels. Patient with LQTS may present with syncope, seizures or sudden cardiac death secondary to polymorphic ventricular tachycardia (VT) or torsades de pointes. Patient may be asymptomatic in the pre-operative period but may develop VT for the first time in operation theatre. Read More

    Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.
    BMC Cancer 2016 Jun 13;16:365. Epub 2016 Jun 13.
    Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 4, Naples, 80138, Italy.
    Background: Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Read More

    Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with Cornelia de Lange syndrome.
    Am J Otolaryngol 2016 May-Jun;37(3):231-5. Epub 2016 Jan 5.
    Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:
    Objective: Cornelia de Lange syndrome (CdLS) is a multiple developmental disorder including hearing loss. The hearing impairment in CdLS patients is not only sensorineural but also conductive hearing loss (CHL). The aim of this study was to elucidate hearing loss causes in CdLS patients and evaluate the effect of ventilation tube (v-tube) insertion in the cases of CHL. Read More

    Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.
    Am J Med Genet C Semin Med Genet 2016 Jun 10;172(2):190-7. Epub 2016 May 10.
    Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. Read More

    Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.
    Am J Med Genet C Semin Med Genet 2016 Jun 10;172(2):206-13. Epub 2016 May 10.
    Cornelia de Lange syndrome (CdLS) is a rare genetic condition related to mutation of various cohesion complex related genes. Its natural history is quite well characterized as regard pediatric age. Relatively little information is available regarding the evolution of the disease in young-adult age. Read More

    Special cases in Cornelia de Lange syndrome: The Spanish experience.
    Am J Med Genet C Semin Med Genet 2016 Jun 10;172(2):198-205. Epub 2016 May 10.
    Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. Read More

    Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
    Am J Med Genet C Semin Med Genet 2016 Jun 10;172(2):229-36. Epub 2016 May 10.
    There is an abundance of information in the literature on patient experiences with Internet support groups (ISGs). However, studies exploring these experiences in a rare disease population are scarce, even though these families are often at a disadvantage for resources, reliable information, and support. The aim of the current study was to explore the experiences with ISGs for parents of children with Cornelia de Lange syndrome (CdLS), a rare genetic diagnosis, in order to better understand the impact on emotional support and their child's medical care. Read More

    Intravenous lacosamide in clinical practice-Results from an independent registry.
    Seizure 2016 Jul 12;39:5-9. Epub 2016 Jan 12.
    Department of Neuropediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.
    Purpose: This non-interventional study was conducted to evaluate the efficacy and tolerability of intravenous lacosamide (LCM-iv) under routine conditions in daily clinical practice as a prospective registry.

    Methods: Patients with any type of seizure or epilepsy syndrome were recruited in 16 neurological and neuropediatric centers in Germany if the treating physician decided to administer LCM-iv for any reason. Observation time per patient was 10 days with daily documentation of LCM-iv administration, type and frequency of seizures, currently used drugs and doses, and adverse events. Read More

    A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
    Am J Med Genet C Semin Med Genet 2016 Jun 5;172(2):179-89. Epub 2016 May 5.
    Cornelia de Lange syndrome is a well-known multiple congenital anomalies/intellectual disability syndrome with genetic heterogeneity and wide clinical variability, regarding the severity of both the intellectual disabilities and the physical features, not completely explained by the genotype-phenotype correlations known to date. The aim of the study was the identification of prognostic features, ascertainable precociously in the patient's life, of a better intellectual outcome and the development of a new prognostic index of severity of intellectual disability in CdLS patients. In 66 italian CdLS patients aged 8 years or more, we evaluated the association of the degree of intellectual disability with various clinical parameters ascertainable before 6 months of life and with the molecular data by the application of cumulative regression logistic model. Read More

    Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
    Am J Med Genet C Semin Med Genet 2016 Jun 4;172(2):237-45. Epub 2016 May 4.
    Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. Read More

    Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.
    Am J Med Genet C Semin Med Genet 2016 Jun 4;172(2):222-8. Epub 2016 May 4.
    Cornelia De Lange syndrome (CdLS) is a rare congenital disease characterized by typical facial dysmorphism, developmental disability, and limb deficiency defects. Various congenital malformations and medical complications have been described with gastroesophageal reflux as the major one. CdLS patients often require multiple high-risk anesthetic procedures. Read More

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