1,232 results match your criteria de Lange Syndrome


A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

Eur J Med Genet 2019 Feb 2. Epub 2019 Feb 2.

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.

Cornelia de Lange syndrome is a rare autosomal dominant or X-linked developmental disorder characterized by characteristic facial dysmorphism, intellectual disability, growth retardation, upper limb and multiorgan anomalies. Causative mutations have been identified in five genes coding for the cohesion complex structure components or regulatory elements. Among them, RAD21 is associated with a milder phenotype. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.010DOI Listing
February 2019
1 Read

Combined liver and hematopoietic stem cell transplantation in X-linked hyper IgM syndrome.

J Allergy Clin Immunol 2019 Jan 22. Epub 2019 Jan 22.

Laboratory of Childhood Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium, and Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. Electronic address:

Liver disease in X-linked hyper IgM syndrome (XHIGM) is an important predictor of mortality. In case liver transplantation (LT) is required, a survival benefit is observed when LT is combined with HSCT. Read More

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http://dx.doi.org/10.1016/j.jaci.2018.12.1013DOI Listing
January 2019
3 Reads

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study.

J Allergy Clin Immunol 2019 Jan 17. Epub 2019 Jan 17.

Department of Pediatric Immunology and HSCT, Great North Children's Hospital, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK; Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne - UK, NE2 4HH.

Background: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193003
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http://dx.doi.org/10.1016/j.jaci.2018.12.1010DOI Listing
January 2019
6 Reads

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Mol Genet Genomic Med 2019 Jan 10:e549. Epub 2019 Jan 10.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Background: Intestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Read More

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http://dx.doi.org/10.1002/mgg3.549DOI Listing
January 2019
1 Read

[Preterm Birth Screening: What Does Really Make Sense?]

Praxis (Bern 1994) 2019 Jan;108(1):53-57

1 Geburtshilfe und Feto-Maternale Medizin, Universitätsklinik für Frauenheilkunde, Inselspital Bern.

Preterm Birth Screening: What Does Really Make Sense? Abstract. Spontaneous preterm birth is a syndrome triggered by multiple mechanisms. In view of the pathophysiological heterogeneity of preterm birth, a single biomarker cannot show the required high negative and positive predictive values. Read More

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https://econtent.hogrefe.com/doi/10.1024/1661-8157/a003137
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http://dx.doi.org/10.1024/1661-8157/a003137DOI Listing
January 2019
10 Reads

Cornelia de Lange syndrome in diverse populations.

Am J Med Genet A 2019 Feb 6;179(2):150-158. Epub 2019 Jan 6.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. Read More

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http://doi.wiley.com/10.1002/ajmg.a.61033
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http://dx.doi.org/10.1002/ajmg.a.61033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367950PMC
February 2019
8 Reads

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

BMC Med Genet 2019 Jan 3;20(1). Epub 2019 Jan 3.

Department of Biology and Medical Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.

Background: Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing represent 15% of all NIPBL genetic abnormalities. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0738-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318863PMC
January 2019
2 Reads

Predicted clinical factors associated with the intensive care unit length of stay after total cavopulmonary connection.

J Thorac Cardiovasc Surg 2018 Nov 15. Epub 2018 Nov 15.

Department of Cardiovascular Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany; Insure (Institute for Translational Cardiac Surgery), Department of Cardiovascular Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany; German Center for Cardiovascular Research, Munich, Germany.

Objectives: A longer length of stay (LOS) in the intensive care unit (ICU) after the total cavopulmonary connection (TCPC) is thought to be a predictive sign of late Fontan failure. This study was performed to determine the clinical risk factors for ICU LOS.

Methods: In total, 483 patients who underwent a TCPC between May 1994 and December 2016 were included the study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00225223183296
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http://dx.doi.org/10.1016/j.jtcvs.2018.10.144DOI Listing
November 2018
8 Reads

Cornelia De Lange Syndrome and Cochlear Implantation.

Iran J Otorhinolaryngol 2018 Nov;30(101):369-373

Department of ENT, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss.

Case Report: A 3-year-old boy with CDLS underwent unilateral cochlear implantation for bilateral profound sensorineural hearing loss. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291814PMC
November 2018

Recurrence and Familial Inheritance of Intronic Pathogenic Variant Associated With Mild CdLS.

Front Neurol 2018 27;9:967. Epub 2018 Nov 27.

Laboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.

Splicing pathogenic variants account for a notable fraction of alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing methods. We describe five subjects, belonging to three families, displaying a mild Cornelia de Lange syndrome phenotype who carry the pathogenic variant c.5329-15A>G, affecting the IVS27 branch site, yet reported in a single case. Read More

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http://dx.doi.org/10.3389/fneur.2018.00967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277459PMC
November 2018
1 Read

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling.

Med Arch 2018 Oct;72(4):297-299

Department of Paediatrics, Richmond University Medical Centre, Staten Island, New York, USA.

Introduction: Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay, and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in the NIPBL, SMC1A, SMC3, RAD21, or HDAC8 genes, which form/regulate a multiprotein complex called cohesin. Cohesin is required for the separation of sister chromatids during cell division. Read More

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http://dx.doi.org/10.5455/medarh.2018.72.297-299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194947PMC
October 2018
1 Read

Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects.

Med Clin (Barc) 2018 Nov 20. Epub 2018 Nov 20.

Unidad de Genética Clínica y Genómica Funcional, Departamento de Farmacología-Fisiología, 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:

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http://dx.doi.org/10.1016/j.medcli.2018.10.001DOI Listing
November 2018

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Cytogenet Genome Res 2018 16;156(4):191-196. Epub 2018 Nov 16.

Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as "a novel genetic disorder. Read More

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http://dx.doi.org/10.1159/000494871DOI Listing
February 2019

Assessment of parental mosaicism in -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

J Med Genet 2019 Feb 27;56(2):75-80. Epub 2018 Oct 27.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

Background: Dravet syndrome is a severe genetic encephalopathy, caused by pathogenic variants in Low-grade parental mosaicism occurs in a substantial proportion of families (7%-13%) and has important implications for recurrence risks. However, parental mosaicism can remain undetected by methods regularly used in diagnostics. In this study, we use single-molecule molecular inversion probes (smMIP), a technique with high sensitivity for detecting low-grade mosaic variants and high cost-effectiveness, to investigate the incidence of parental mosaicism of variants in a cohort of 90 families and assess the feasibility of this technique. Read More

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105672
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http://dx.doi.org/10.1136/jmedgenet-2018-105672DOI Listing
February 2019
7 Reads

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Psychiatry Clin Neurosci 2019 Jan 12;73(1):11-19. Epub 2018 Dec 12.

Centre for Brain Development and Repair, Institute for Stem Cell Biology and Regenerative Medicine, Bengaluru, India.

Aim: Severe mental illnesses (SMI), such as bipolar disorder and schizophrenia, are highly heritable, and have a complex pattern of inheritance. Genome-wide association studies detect a part of the heritability, which can be attributed to common genetic variation. Examination of rare variants with next-generation sequencing may add to the understanding of the genetic architecture of SMI. Read More

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http://doi.wiley.com/10.1111/pcn.12788
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http://dx.doi.org/10.1111/pcn.12788DOI Listing
January 2019
6 Reads
1.620 Impact Factor

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Orphanet J Rare Dis 2018 Oct 25;13(1):185. Epub 2018 Oct 25.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.

Background: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0924-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203267PMC
October 2018
9 Reads

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Ann Hum Genet 2019 Mar 10;83(2):100-109. Epub 2018 Oct 10.

Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.

Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway. Read More

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http://doi.wiley.com/10.1111/ahg.12289
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http://dx.doi.org/10.1111/ahg.12289DOI Listing
March 2019
10 Reads

Development, behaviour and autism in individuals with SMC1A variants.

J Child Psychol Psychiatry 2018 Oct 8. Epub 2018 Oct 8.

Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants.

Methods: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Read More

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http://doi.wiley.com/10.1111/jcpp.12979
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http://dx.doi.org/10.1111/jcpp.12979DOI Listing
October 2018
28 Reads

Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.

J Pediatr Neurosci 2018 Jul-Sep;13(3):334-336

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/3/334
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http://dx.doi.org/10.4103/JPN.JPN_25_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144607PMC
October 2018
15 Reads

A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn.

Chin Med J (Engl) 2018 Oct;131(19):2384-2385

Department of Eugenics and Genetics, Women and Infants Hospital of Zhengzhou, Zhengzhou, Henan 45000, China.

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http://www.cmj.org/text.asp?2018/131/19/2384/241793
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http://dx.doi.org/10.4103/0366-6999.241793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166451PMC
October 2018
4 Reads

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

Am J Med Genet A 2018 Sep 21;176(9):1865-1871. Epub 2018 Sep 21.

Department of Pediatrics. ASST-Lariana. Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.

Cornelia de Lange syndrome (CdLS) is a genetic condition characterized by intellectual disability, peculiar facial dysmorphisms, multiorgan malformations, and growth problems. Majority cases of CdLS are caused by mutations in genes of Cohesin pathway. Although feeding problems are a well-known feature, no specific data have been published about the use of nutritional devices. Read More

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http://dx.doi.org/10.1002/ajmg.a.40372DOI Listing
September 2018
3 Reads

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.

Hum Mol Genet 2019 Jan;28(1):64-73

Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five genes: nipped-B-like protein, structural maintenance of chromosomes 1A, structural maintenance of chromosomes 3, RAD21 cohesin complex component and histone deacetylase 8 (HDAC8). Read More

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http://dx.doi.org/10.1093/hmg/ddy329DOI Listing
January 2019
3 Reads

Ivabradine Aggravates the Proarrhythmic Risk in Experimental Models of Long QT Syndrome.

Cardiovasc Toxicol 2018 Sep 20. Epub 2018 Sep 20.

Division of Electrophysiology, Department of Cardiovascular Medicine, University of Münster, Münster, Germany.

Ivabradine has recently been demonstrated to have antiarrhythmic properties in atrial fibrillation. The aim of the present study was to assess the electrophysiologic profile of ivabradine in an experimental whole-heart model of long-QT-syndrome. In 12 isolated rabbit hearts long-QT-2-syndrome (LQT2) was simulated by infusion of D,L-sotalol (100 µM). Read More

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http://link.springer.com/10.1007/s12012-018-9482-y
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http://dx.doi.org/10.1007/s12012-018-9482-yDOI Listing
September 2018
18 Reads

Cochlear implantation in children with congenital long QT syndrome: Introduction of an evidence-based pathway of care.

Cochlear Implants Int 2018 Nov 19;19(6):350-354. Epub 2018 Sep 19.

a Department of Paediatric Anaesthesia , Royal Manchester Children's Hospital , Manchester , UK.

Congenital long QT syndrome (cLQTS) is an inherited cardiac ion channelopathy characterized by a long corrected-QT interval on the ECG, associated with a risk of syncope and sudden death as a result of arrhythmias. The archetypal arrhythmia associated with cLQTS is torsade de pointes which may degenerate into ventricular fibrillation. Children with Jervell and Lange-Neilsen syndrome have the combination of cLQTS and congenital sensorineural deafness and may present for cochlear implantation (CI). Read More

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https://www.tandfonline.com/doi/full/10.1080/14670100.2018.1
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http://dx.doi.org/10.1080/14670100.2018.1518686DOI Listing
November 2018
10 Reads

Temporal changes within mechanical dyssynchrony and rotational mechanics in Takotsubo syndrome: A cardiovascular magnetic resonance imaging study.

Int J Cardiol 2018 Dec 22;273:256-262. Epub 2018 Apr 22.

University Medical Center Göttingen, Department of Cardiology and Pneumology, Georg-August University, Göttingen Germany and German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany; Department of Cardiology, Royal North Shore Hospital, The Kolling Institute, Northern Clinical School, University of Sydney, Sydney, Australia. Electronic address:

Background: The pathophysiological significance of dyssynchrony and rotation in Takotsubo syndrome (TTS) is unknown. We aimed to define the influence of cardiovascular magnetic resonance feature tracking (CMR-FT) dyssynchrony and rotational mechanics in acute and during clinical course of TTS.

Methods: This multicenter study included 152 TTS patients undergoing CMR (mean 3 days after symptom onset). Read More

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http://dx.doi.org/10.1016/j.ijcard.2018.04.088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236127PMC
December 2018
9 Reads

Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 Oct 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

Purpose: Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for PMS2-associated Lynch syndrome. Using a large data set from a worldwide collaboration, our aim was to determine accurate penetrance measures of cancers for carriers of heterozygous pathogenic PMS2 variants. Read More

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http://ascopubs.org/doi/10.1200/JCO.2018.78.4777
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http://dx.doi.org/10.1200/JCO.2018.78.4777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349460PMC
October 2018
20 Reads

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Genet Med 2018 Aug 30. Epub 2018 Aug 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.

Purpose: Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.

Methods: We retrospectively studied patients referred for clinical exome sequencing (CES, N = 10,698). Read More

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http://dx.doi.org/10.1038/s41436-018-0085-6DOI Listing
August 2018
4 Reads

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Eur J Med Genet 2018 Aug 17. Epub 2018 Aug 17.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, 75108, Uppsala, Sweden. Electronic address:

Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder where 70% of clinically diagnosed patients harbor a variant in one of five CdLS associated cohesin proteins. Around 500 variants have been identified to cause CdLS, however only eight different alterations have been identified in the RAD21 gene, encoding the RAD21 cohesin complex component protein that constitute the link between SMC1A and SMC3 within the cohesin ring. We report a 15-month-old boy presenting with developmental delay, distinct CdLS-like facial features, gastrointestinal reflux in early infancy, testis retention, prominent digit pads and diaphragmatic hernia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183018
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http://dx.doi.org/10.1016/j.ejmg.2018.08.007DOI Listing
August 2018
4 Reads

Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.

Stem Cell Res 2018 08 25;31:174-180. Epub 2018 Jul 25.

Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil; Centro Nacional de Biologia Estrutural e Bioimagem, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil; Instituto Nacional de Ciência e Tecnologia em Medicina Regenerativa, Rio de Janeiro, RJ, Brazil.

Four human iPSC cell lines (one Jervell and Lange-Nielsen Syndrome, one Long QT Syndrome-type 1 and two healthy controls) were generated from peripheral blood obtained from donors belonging to the same family. CytoTune™-iPS 2.0 Sendai Reprogramming Kit (containing OCT3/4, KLF4, SOX2 and cMYC as reprogramming factors) was used to generate all cell lines. Read More

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http://dx.doi.org/10.1016/j.scr.2018.07.016DOI Listing
August 2018
15 Reads

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):557-560

Center of Prenatal Diagnosis, Hangzhou Gynecology and Obstetrics Hospital (Hangzhou Women and Children's Health Care Hospital), Hangzhou, Zhejiang 310008, China.

Objective: To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome (CdLS).

Methods: Genetic testing was carried out for a baby girl born by Cesarean section. The patient had clinical features including peculiar face, long bushy eyebrows, hypertelorism, wide sagittal suture, low-set ears, retrognathia, polydactyly and polysyndactyly of first toes, weak cry, poor suck and slow response, and was suspected as CdLS. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.04.022DOI Listing
August 2018
11 Reads

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):493-497

Department of Neonatology, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China.

Objective: To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).

Methods: Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing. Read More

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http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
Publisher Site
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.04.007DOI Listing
August 2018
5 Reads

Mosaic Intronic Variant in a Family With Cornelia de Lange Syndrome.

Front Genet 2018 13;9:255. Epub 2018 Jul 13.

Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.

Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex. In approximately 70% of CdLS patients, pathogenic variants are detected and 15% of them are predicted to affect splicing. Moreover, a large portion of genetic variants in was shown to be somatic mosaicism. Read More

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http://dx.doi.org/10.3389/fgene.2018.00255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053508PMC
July 2018
5 Reads

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Nat Rev Genet 2018 Oct;19(10):649-666

Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Read More

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http://dx.doi.org/10.1038/s41576-018-0031-0DOI Listing
October 2018
14 Reads

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.

Cell Physiol Biochem 2018 10;47(6):2388-2395. Epub 2018 Jul 10.

Background/aims: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple organ system anomalies. Previously, the diagnosis of CdLS was based mainly on identifying the typical phenotype in patients. However, with the advances in clinical molecular genetic diagnostic techniques, more patients, especially patients with milder phenotypes, are being diagnosed from detecting pathogenic mutation. Read More

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http://dx.doi.org/10.1159/000491613DOI Listing
August 2018
20 Reads

A systematic review of the management and outcomes of cecal and appendiceal volvulus in children.

Acta Paediatr 2018 Dec 20;107(12):2054-2058. Epub 2018 Jul 20.

Department of Pediatric Surgery, Chelsea Children's Hospital, Chelsea and Westminster Hospital NHS Foundation Trust, Imperial College London, London, UK.

Aim: Appendiceal volvulus (AV) and cecal volvulus (CV) are rare conditions and there is no consensus regarding the best surgical approach. This study reviewed CV and AV management and outcomes in children.

Methods: PubMed was reviewed from 1990 to 2018 for AV and CV in children and studies published in English were selected by two independent reviewers. Read More

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http://doi.wiley.com/10.1111/apa.14476
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http://dx.doi.org/10.1111/apa.14476DOI Listing
December 2018
11 Reads

Mother's obesity and high child's waist circumference are predictive factors of severe child's obesity: an observational study in French Guiana.

BMC Pediatr 2018 06 9;18(1):188. Epub 2018 Jun 9.

Department of Pediatric Medicine and Surgery, Cayenne Hospital, Rue des flamboyants, BP 6006, 97306, Cayenne Cedex, French Guiana.

Background: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana.

Methods: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient's non opposition.

Results: Our group classifications revealed that 36 of 150 (24%) participants were classified as being metabolically abnormal obesity" (MAO), while 114 of 150 (76%) were categorized as metabolically normal obesity" (MNO). Read More

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http://dx.doi.org/10.1186/s12887-018-1158-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994247PMC
June 2018
3 Reads

Left ventricular myocardial deformation in Takotsubo syndrome: a cardiovascular magnetic resonance myocardial feature tracking study.

Eur Radiol 2018 Jun 7. Epub 2018 Jun 7.

Medical Clinic II (Cardiology/Angiology/Intensive Care Medicine), University Heart Center Lübeck and German Center for Cardiovascular Research (DZHK), partner site Hamburg/Kiel/Lübeck, Lübeck, Germany.

Objectives: This study assessed the applicability and prognostic value of cardiovascular magnetic resonance (CMR) left ventricular deformation analysis in Takotsubo syndrome (TTS).

Methods: CMR-feature tracking was performed blinded in a core laboratory to determine circumferential (CS), radial (RS) and longitudinal strain (LS) in 141 TTS patients participating in this cohort study. A subgroup of consecutive TTS patients (n = 20) was compared with age- and sex-matched controls with anterior ST-segment elevation myocardial infarction (STEMI) and non-STEMI as well as healthy subjects. Read More

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http://dx.doi.org/10.1007/s00330-018-5475-2DOI Listing
June 2018
18 Reads

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.

Hum Mol Genet 2018 09;27(17):3002-3011

Institute for Genetic and Biomedical Research, National Research Council, Pisa, Italy.

Cornelia de Lange syndrome (CdLS) is a rare disease characterized by cognitive impairment, multisystemic alterations and premature aging. Furthermore, CdLS cells display gene expression dysregulation and genomic instability. Here, we demonstrated that treatment with antioxidant drugs, such as ascorbic acid and riboceine, reduced the level of genomic instability and extended the in vitro lifespan of CdLS cell lines. Read More

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http://dx.doi.org/10.1093/hmg/ddy203DOI Listing
September 2018
4 Reads

Intestinal histopathological changes in a porcine model of pneumoperitoneum-induced intra-abdominal hypertension.

Surg Endosc 2018 Sep 17;32(9):3989-4002. Epub 2018 May 17.

Department of General Surgery, Virgen de la Arrixaca General University Hospital, Murcia, Spain.

Background: Low splanchnic perfusion is an immediate effect of pneumoperitoneum-induced intra-abdominal hypertension (IAH). Anatomical structure results in the intestinal mucosa being the area most sensitive to hypoperfusion. The relationship between intestinal injury and clinical parameters of tissue perfusion [abdominal perfusion pressure (APP), gastric intramucosal pH (pH) and lactic acid (Lc)] has not been previously studied. Read More

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http://dx.doi.org/10.1007/s00464-018-6142-zDOI Listing
September 2018
12 Reads

An Analysis of Pediatric Scar Progression Over Time.

Eplasty 2018 27;18:e18. Epub 2018 Apr 27.

Florida Atlantic University, Boca Raton.

The advances in surgical approaches for a pyloromyotomy have all focused on creating smaller incisions from a right upper quadrant now to a laparoscopic umbilical incision. A key assumption is that the final scar retains the size of the original incision as the child matures. Our case reports on a family with several members, now adults, with the same surgery and same surgeon who had the right upper quadrant incision as infants to elucidate the extent of how infantile scars grow over time, significantly exceeding the original incision. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932956PMC
April 2018
1 Read

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].

Zhongguo Dang Dai Er Ke Za Zhi 2018 May;20(5):387-391

Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, China.

Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Read More

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May 2018
15 Reads

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.

Am J Med Genet A 2018 05;176(5):1249-1252

Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others). Most patients meeting the clinical criteria for BOS (MIM: 605039) have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited from a germline mosaic mother. Read More

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http://doi.wiley.com/10.1002/ajmg.a.38686
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http://dx.doi.org/10.1002/ajmg.a.38686DOI Listing
May 2018
3 Reads

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.

Am J Intellect Dev Disabil 2018 05;123(3):241-253

Chris Oliver, University of Birmingham, UK.

It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of children with Angelman, Cornelia de Lange and Cri du Chat syndrome who have either shown chronic CB ( n = 18) or low/no CB ( n = 26) in the preceding 7 years. The presence of chronic, long-term CB increased maternal stress but not depression or anxiety, and did not influence positive well-being. Read More

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http://dx.doi.org/10.1352/1944-7558-123.3.241DOI Listing

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.

Pediatr Nephrol 2018 Jul 16;33(7):1269-1272. 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

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http://dx.doi.org/10.1007/s00467-018-3961-zDOI Listing
July 2018
9 Reads

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

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http://dx.doi.org/10.1097/PGP.0000000000000504DOI Listing

Diagnosis and management of Aspergillus diseases: executive summary of the 2017 ESCMID-ECMM-ERS guideline.

Clin Microbiol Infect 2018 May 12;24 Suppl 1:e1-e38. 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

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http://dx.doi.org/10.1016/j.cmi.2018.01.002DOI Listing
May 2018
8 Reads

Attenuated behaviour in Cornelia de Lange and fragile X syndromes.

J Intellect Disabil Res 2018 Jun 13;62(6):486-495. 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

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http://dx.doi.org/10.1111/jir.12481DOI Listing
June 2018
1 Read

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

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January 2018
4 Reads

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

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http://dx.doi.org/10.1016/j.braindev.2017.12.013DOI Listing
May 2018
3 Reads