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    1187 results match your criteria de Lange Syndrome

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    Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
    Pediatr Nephrol 2018 Apr 16. Epub 2018 Apr 16.
    Dr. v. Hauner Children's Hospital, Division of Pediatric Nephrology, Ludwig-Maximilians University, Lindwurmstraße 4, 80337, Munich, Germany.
    Background: Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene. Usually CNS is not responsive to immunosuppressive therapy, but treatment with ACE inhibitors, AT1 receptor blockade and/or indomethacin can reduce proteinuria. If the disease progresses to end-stage renal disease, kidney transplantation is the therapy of choice. Read More

    Endometrial Carcinoma With an Unusual Morphology in a Patient With Cornelia de Lange Syndrome: A Case Study.
    Int J Gynecol Pathol 2018 Apr 3. Epub 2018 Apr 3.
    Department of Gynecology (K.T., M.I., H.S., T.U., T.K.) Division of Pathology and Clinical Laboratories (H.Y.), National Cancer Center Hospital, Tokyo, Japan.
    Cornelia de Lange syndrome (CdLS) is a cohesinopathy, which is characterized by multiple structural anomalies as well as mental and growth retardation. A 36-yr-old nulliparous woman with oligomenorrhea was referred to us due to a mass in the uterine corpus. She had been clinically diagnosed with CdLS during infancy based on her specific facial features as well as growth and intellectual retardation. Read More

    Diagnosis and management of Aspergillus diseases: executive summary of the 2017 ESCMID-ECMM-ERS guideline.
    Clin Microbiol Infect 2018 Mar 12. Epub 2018 Mar 12.
    First Department of Medicine, Laiko Hospital, National and Kapodistrian University of Athens, Athens, Greece; German Centre for Infection Research (DZIF) partner site Bonn-Cologne, Cologne, Germany; CECAD Cluster of Excellence, University of Cologne, Cologne, Germany; Clinical Trials Center Cologne, University Hospital of Cologne, Cologne, Germany; ESCMID Fungal Infection Study Group (EFISG); European Confederation of Medical Mycology (ECMM); ESCMID European Study Group for Infections in Compromised Hosts (ESGICH). Electronic address:
    The European Society for Clinical Microbiology and Infectious Diseases, the European Confederation of Medical Mycology and the European Respiratory Society Joint Clinical Guidelines focus on diagnosis and management of aspergillosis. Of the numerous recommendations, a few are summarized here. Chest computed tomography as well as bronchoscopy with bronchoalveolar lavage (BAL) in patients with suspicion of pulmonary invasive aspergillosis (IA) are strongly recommended. Read More

    Attenuated behaviour in Cornelia de Lange and fragile X syndromes.
    J Intellect Disabil Res 2018 Mar 13. Epub 2018 Mar 13.
    School of Psychology, Cardiff University, Cardiff, UK.
    Background: Catatonia-like presentations in people with autism have been increasingly recognised within research and diagnostic guidelines. The recently developed Attenuated Behaviour Questionnaire has identified that attenuated behaviour [autistic catatonia] is very prevalent in people with autism spectrum disorders (ASDs) and associated with repetitive behaviour. In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive behaviour as longitudinal predictors of attenuated behaviour. Read More

    A Novel Frameshift Mutation (c.5387_5388insTT) in in Cornelia de Lange Syndrome with Severe Phenotype.
    Ann Clin Lab Sci 2018 Jan;48(1):106-109
    Department of Pediatrics, Kangdong Sacred Heart Hospital, Seoul, Korea
    Cornelia de Lange syndrome (CdLS) is a developmental disorder which is characterized by typical facial features, upper extremity malformations, and growth and cognitive delays. The genes involved in CdLS encode the cohesin complex and its associated proteins; and mutations, which account for half of the cases, result in severe CdLS phenotypes. We describe a girl with CdLS, presenting with typical facial dysmorphism, cleft palate, hypertrichosis, upper limb hypertonicity, flexion contracture of elbows, micromelia, bilateral hearing loss, gastroesophageal reflux, and severe pyloric stenosis. Read More

    De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
    Brain Dev 2018 May 5;40(5):406-409. Epub 2018 Mar 5.
    Department of Pediatrics, Research Center for Children, Research Center for Rett Syndrome, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address:
    We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p. Read More

    Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome.
    Cureus 2017 Dec 28;9(12):e1993. Epub 2017 Dec 28.
    Department of Psychiatry and Behavioral Medicine, University of north dakota.
    Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders. The prevalence of sleep-related breathing disorders, in particular, obstructive sleep apnea (OSA), was conducted using validated questionnaires. Read More

    Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
    Epilepsia 2018 Mar 20;59(3):690-703. Epub 2018 Feb 20.
    Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.
    Objective: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. The most important determinant of disease severity is the type of variant, with variants that cause a complete loss of function of the SCN1A protein (α-subunit of the neuronal sodium channel Nav1.1) being detected almost exclusively in Dravet syndrome patients. Read More

    Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
    BMC Pediatr 2018 02 16;18(1):64. Epub 2018 Feb 16.
    National Key Laboratory of Medical Genetics of Central South University, Changsha, Hunan, 410008, China.
    Background: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China.

    Methods: This is an observational study. Read More

    Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
    Nat Genet 2018 Feb 12. Epub 2018 Feb 12.
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Edinburgh, UK.
    In the version of this article initially published, Wendy Bickmore and Madapura Pradeepa were incorrectly not indicated as corresponding authors. The error has been corrected in the HTML and PDF versions of the paper. Read More

    Acquired long QT syndrome and torsade de pointes.
    Pacing Clin Electrophysiol 2018 Apr 30;41(4):414-421. Epub 2018 Mar 30.
    Downstate Medical Center, State University of New York, New York, NY, USA.
    Since its initial description by Jervell and Lange-Nielsen in 1957, the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. Although congenital LQTS continues to remain the domain of cardiologists, cardiac electrophysiologists, and specialized centers, the by far more frequent acquired drug-induced LQTS is the domain of all physicians and other members of the health care team who are required to make therapeutic decisions. This report will review the electrophysiological mechanisms of LQTS and torsade de pointes, electrocardiographic characteristics of acquired LQTS, its clinical presentation, management, and future directions in the field. Read More

    Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.
    Int J Mol Sci 2018 Feb 1;19(2). Epub 2018 Feb 1.
    Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy.
    Cohesin complex components exert fundamental roles in animal cells, both canonical in cell cycle and non-canonical in gene expression regulation. Germline mutations in genes coding for cohesins result in developmental disorders named cohesinopaties, of which Cornelia de Lange syndrome (CdLS) is the best-known entity. However, a basic description of mammalian expression pattern of cohesins in a physiologic condition is still needed. Read More

    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
    Nat Genet 2018 Mar 29;50(3):329-332. Epub 2018 Jan 29.
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Edinburgh, UK.
    We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense variant, which retained the ability to coimmunoprecipitate with NIPBL, but bound poorly to acetylated histones. BRD4 and NIPBL displayed correlated binding at super-enhancers and appeared to co-regulate developmental gene expression. Read More

    NIPBL haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.
    Sci Rep 2018 Jan 18;8(1):1056. Epub 2018 Jan 18.
    Division of Human Genetics, The Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
    Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orchestration of transcriptomic regulatory networks necessary for embryonic development. Mutations in NIPBL are responsible for the majority of cases of CdLS. Read More

    Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
    J Hum Genet 2018 Mar 26;63(3):349-356. Epub 2017 Dec 26.
    Department of Human Genetics, University of Chicago, Chicago, IL, USA.
    Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four female Subjects who were found to carry novel intragenic deletions in HDAC8. In one case, the deletion was found in mosaic state and it was determined to be present in ~38% of blood lymphocytes and in nearly all cells of a buccal sample. Read More

    Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
    PLoS Genet 2017 12 20;13(12):e1007137. Epub 2017 Dec 20.
    Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
    Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdLS). Other mutations are described in the cohesin subunits SMC1A, RAD21, SMC3 and the HDAC8 protein. Read More

    Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
    Orphanet J Rare Dis 2017 Nov 21;12(1):174. Epub 2017 Nov 21.
    Department of Health Sciences, San Paolo Hospital Medical School University of Milan, Via A. di Rudinì, 8, 20142, Milan, Italy.
    Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. Read More

    Novel mosaic variants in two patients with Cornelia de Lange syndrome.
    Eur J Med Genet 2017 Nov 15. Epub 2017 Nov 15.
    Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:
    Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Read More

    Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.
    Biol Open 2017 Dec 15;6(12):1802-1813. Epub 2017 Dec 15.
    Department of Biological Science, Lehigh University, Bethlehem, Pennsylvania 18015, USA
    Robert syndrome (RBS) and Cornelia de Lange syndrome (CdLS) are human developmental disorders characterized by craniofacial deformities, limb malformation and mental retardation. These birth defects are collectively termed cohesinopathies as both arise from mutations in cohesion genes. CdLS arises due to autosomal dominant mutations or haploinsufficiencies in cohesin subunits (, and ) or cohesin auxiliary factors ( and ) that result in transcriptional dysregulation of developmental programs. Read More

    Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
    Gene 2018 Jan 14;641:144-150. Epub 2017 Oct 14.
    Department of Neurosurgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address:
    Syndromic craniosynostosis is a group of multiple conditions with high heterogeneity, and many rare syndromes still remain to be characterized. To identify and analyze causative genetic variants in nine unrelated probands mainly manifested as syndromic craniosynostosis, we reviewed the relevant medical information of the patients and performed the whole exome sequencing, further verified with Sanger sequencing and parental background. Bioinformatics analysis was used to evaluate the potential deleterious or benign effect of each genetic variant through evolutionary conservation alignment, multi-lines of computer predication and the allele frequency in population dataset (control and patient). Read More

    Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
    Clin Genet 2017 Oct 10. Epub 2017 Oct 10.
    Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
    The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies, for example, due to STXBP1 variants. Read More

    Contemporary stroke prevention strategies in 11 096 European patients with atrial fibrillation: a report from the EURObservational Research Programme on Atrial Fibrillation (EORP-AF) Long-Term General Registry.
    Europace 2017 Sep 14. Epub 2017 Sep 14.
    Institute of Cardiovascular Sciences, University of Birmingham, Dudley Road, B18 7QH Birmingham, UK.
    Aims: Contemporary data regarding atrial fibrillation (AF) management and current use of oral anticoagulants (OACs) for stroke prevention are needed.

    Methods And Results: The EURObservational Research Programme on AF (EORP-AF) Long-Term General Registry analysed consecutive AF patients presenting to cardiologists in 250 centres from 27 European countries. From 2013 to 2016, 11 096 patients were enrolled (40. Read More

    Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
    Mol Genet Genomic Med 2017 Sep 21;5(5):592-601. Epub 2017 Jun 21.
    Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary DisordersKing Abdulaziz UniversityJeddahSaudi Arabia.
    Background: One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the gene. Bi-allelic mutations in the gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and early-onset arrhythmias with prolonged QTc interval on surface ECG and sensorineural deafness. Occasionally, bi-allelic mutations in are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1). Read More

    Synophrys: Epidemiological Study.
    Int J Trichology 2017 Jul-Sep;9(3):105-107
    Department of Dermatology, Saham Hospital, Muscat, Oman.
    Introduction: Fusion of eyebrows above the bridge of nose is known as synophrys and is a normal variation. This variation is also recognized as a clinical feature of several genetic disorders, Cornelia De Lange syndrome being the commonest. Several studies, on aesthetics of face and eyebrows have been conducted, also on the role of eyebrows in emotional expression and nonverbal communication. Read More

    An experimental study of executive function and social impairment in Cornelia de Lange syndrome.
    J Neurodev Disord 2017 Sep 11;9(1):33. Epub 2017 Sep 11.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, B15 2TT, Edgbaston, UK.
    Background: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning.

    Methods: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22. Read More

    Cornelia de lange syndrome with thyroid agenesis of an indonesian patient.
    Cell Mol Biol (Noisy-le-grand) 2017 Aug 30;63(8):93-94. Epub 2017 Aug 30.
    Department of Child Health, Faculty of Medicine, Universitas Padjadjaran /Hasan Sadikin General Hospital, Bandung, Indonesia.
    Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. Read More

    Cognitive flexibility and its electrophysiological correlates in Gilles de la Tourette syndrome.
    Dev Cogn Neurosci 2017 Oct 18;27:78-90. Epub 2017 Aug 18.
    Department of Neurology, Hannover Medical School, Hannover, Germany.
    Motor symptoms in Gilles de la Tourette syndrome (GTS) have been related to changes in frontostriatal brain networks. These changes may also give rise to alterations in cognitive flexibility. However, conclusive evidence for altered cognitive flexibility in patients with GTS is still lacking. Read More

    The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
    Clin Epigenetics 2017 25;9:89. Epub 2017 Aug 25.
    Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA 92697 USA.
    Background: Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of (), the human homolog of Drosophila . NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion important for mitosis but is also increasingly recognized as a regulator of gene expression. Read More

    Cornelia de Lange syndrome: What every otolaryngologist should know.
    Ear Nose Throat J 2017 Aug;96(8):E6-E9
    Department of Otolaryngology, Naval Medical Center, 620 John Paul Jones Circle, Portsmouth, VA 23708, USA.
    Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. Read More

    Global prevalence of alcohol use and binge drinking during pregnancy, and fetal alcohol spectrum disorder.
    Biochem Cell Biol 2018 Apr 23;96(2):237-240. Epub 2017 Aug 23.
    a Institute for Mental Health Policy Research, Centre for Addiction and Mental Health, 33 Russell Street, Toronto, ON M5S 2S1, Canada.
    Alcohol use during pregnancy is an established cause of fetal alcohol spectrum disorder (FASD), with heavy drinking during pregnancy being explicitly linked to fetal alcohol syndrome (FAS). This paper presents recent estimates of the prevalence of: (i) any amount of alcohol use during pregnancy; (ii) one or more binge drinking episode(s) (4 or more standard drinks on a single occasion) during pregnancy; (iii) FAS; and (iv) FASD among the general population globally and by World Health Organization region. It is apparent, based on the presented estimates, that alcohol use and binge drinking occur frequently among pregnant women in many countries and as a result, FASD is a prevalent alcohol-related developmental disability. Read More


    Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.
    J Neurodev Disord 2017 15;9:29. Epub 2017 Aug 15.
    Cerebra Centre of Neurodevelopmental Disorders, University of Birmingham, Birmingham, UK.
    Background: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

    Methods: Participants were 24 individuals with CdLS aged 13-42 years ( = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years ( = 24; SD = ). Read More

    Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.
    J Neurodev Disord 2017 Aug 15;9(1):29. Epub 2017 Aug 15.
    Cerebra Centre of Neurodevelopmental Disorders, University of Birmingham, Birmingham, UK.
    Background: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

    Methods: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5. Read More

    Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
    Clin Case Rep 2017 Aug 28;5(8):1277-1283. Epub 2017 Jun 28.
    Department of PediatricsDivision of Medical GeneticsChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvania.
    Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Read More

    Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
    Birth Defects Res 2017 Oct 28;109(16):1268-1276. Epub 2017 Jul 28.
    Università degli Studi di Milano, Dipartimento di Scienze della Salute, Milan, Italy.
    Background: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation. Read More

    Self-injurious behavior.
    Neurosci Biobehav Rev 2018 Jan 8;84:483-491. Epub 2017 Jul 8.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
    Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB can be devastating and potentially life-threatening. There is increasing attention for somatic substrates of behavior in genetic syndromes, and growing evidence of an association between pain and discomfort with SIB in people with ID and genetic syndromes. Read More

    Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.
    Genetics 2017 09 5;207(1):139-151. Epub 2017 Jul 5.
    Centre de Recherche du Centre Hospitalier Universitaire de Québec-Université Laval, Québec G1V 4G2, Canada
    Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the three-dimensional genome organization with transcriptional regulation. Read More

    Congenital Long QT syndrome and torsade de pointes.
    Ann Noninvasive Electrocardiol 2017 Nov 2;22(6). Epub 2017 Jul 2.
    Downstate Medical Center, State University of New York, Brooklyn, NY, USA.
    Since its initial description by Jervell and Lange-Nielsen in 1957, the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. A prolonged QT interval in the surface electrocardiogram is the sine qua non of the LQTS and is a surrogate measure of the ventricular action potential duration (APD). Congenital as well as acquired alterations in certain cardiac ion channels can affect their currents in such a way as to increase the APD and hence the QT interval. Read More

    Scuba diving and otology: a systematic review with recommendations on diagnosis, treatment and post-operative care.
    Diving Hyperb Med 2017 Jun;47(2):97-109
    Division of Otolaryngology - Head and Neck Surgery, Department of Surgery, University of Calgary, Alberta, Canada.
    Scuba diving is a popular recreational and professional activity with inherent risks. Complications related to barotrauma and decompression illness can pose significant morbidity to a diver's hearing and balance systems. The majority of dive-related injuries affect the head and neck, particularly the outer, middle and inner ear. Read More

    Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
    Med Clin (Barc) 2017 Oct 16;149(7):300-302. Epub 2017 Jun 16.
    Unidad de Genética Clínica y Genómica Funcional, Departamentos de Farmacología-Fisiología y Servicio de Pediatría del Hospital Clínico Universitario "Lozano Blesa". Facultad de Medicina, Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS)-Aragón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-GCV02, Zaragoza, España. Electronic address:
    Introduction: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Read More

    Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.
    J Clin Res Pediatr Endocrinol 2017 Dec 7;9(4):366-370. Epub 2017 Jun 7.
    Leiden University Medical Center, Department of Pediatrics, Leiden, The Netherlands.
    Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Read More

    Parry Romberg syndrome presenting with a giant intracranial aneurysm: a case report.
    Oxf Med Case Reports 2017 May 30;2017(5):omx017. Epub 2017 May 30.
    Department of Paediatrics, Máxima Medical Center, 5504 DB Veldhoven, The Netherlands.
    A giant intracranial aneurysm was diagnosed in a 10-year-old girl when she developed a right abducens nerve palsy. The aneurysm was treated successfully. Six years later, however, she presented with a progressive deformity, leading to the diagnosis Parry Romberg Syndrome (PRS), a rare diagnosis characterized by hemifacial atrophy of skin, subcutaneous tissue, skeletal muscle and bones and often associated with various non-specific intracerebral abnormalities. Read More

    Phenotypes and genotypes in individuals with SMC1A variants.
    Am J Med Genet A 2017 Aug 26;173(8):2108-2125. Epub 2017 May 26.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
    SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. Read More

    Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?
    Birth Defects Res 2017 Jun 22;109(10):771-777. Epub 2017 May 22.
    Department of Health Sciences, San Paolo Hospital Medical School University of Milan, Milan, Italy-EU.
    Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk. Read More

    [Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].
    Arch Argent Pediatr 2017 06;115(3):e170-e174
    Escuela de Medicina, Universidad Industrial de Santander.
    Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. Read More

    Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
    Am J Med Genet A 2017 Jun 19;173(6):1566-1574. 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

    How many roads lead to cohesinopathies?
    Dev Dyn 2017 Nov 22;246(11):881-888. Epub 2017 May 22.
    Department of Biological Science, Lehigh University, Bethlehem, Pennsylvania.
    Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include Roberts syndrome (RBS), Cornelia de Lange Syndrome (CdLS), and Warsaw Breakage Syndrome (WABS). The cohesinopathies are characterized by overlapping phenotypes ranging from craniofacial deformities, limb defects, and mental retardation. Read More

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