1,316 results match your criteria de Lange Syndrome


Belimumab reduces antiphospholipid antibodies in primary triple-positive antiphospholipid syndrome.

Autoimmun Rev 2020 Jun 12:102594. Epub 2020 Jun 12.

Campus Kerckhoff of Justus Liebig University Giessen, Dept. of Rheumatology, Immunology, Osteology and Physical Medicine, Germany.

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http://dx.doi.org/10.1016/j.autrev.2020.102594DOI Listing

A novel mosaic variant on reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.

Cold Spring Harb Mol Case Stud 2020 Jun 12;6(3). Epub 2020 Jun 12.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

Mosaicism in Cornelia de Lange syndrome (CdLS) has been reported in clinically diagnosed CdLS patients with negative molecular testing using blood as the specimen, particularly in the gene. Here we report a novel mosaic variant in identified in the buccal swab DNA of a patient with a mild CdLS phenotype. Our patient presented with global developmental delay, dysmorphic features, microcephaly, and short stature, with no limb defect. Read More

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http://dx.doi.org/10.1101/mcs.a005322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304356PMC

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.

Mol Genet Genomic Med 2020 Jun 8:e1318. Epub 2020 Jun 8.

Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.

Background: Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within the same family.

Methods: Exome sequencing and confirmatory Sanger sequencing showed the same previously described p. Read More

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http://dx.doi.org/10.1002/mgg3.1318DOI Listing

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Am J Med Genet A 2020 Jul 31;182(7):1690-1696. Epub 2020 May 31.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

Cornelia de Lange syndrome (CdLS), Rubinstein-Taybi syndrome (RSTS), and KBG syndrome are three distinct developmental human disorders. Variants in seven genes belonging to the cohesin pathway, NIPBL, SMC1A, SMC3, HDAC8, RAD21, ANKRD11, and BRD4, were identified in about 80% of patients with CdLS, suggesting that additional causative genes remain to be discovered. Two genes, CREBBP and EP300, have been associated with RSTS, whereas KBG results from variants in ANKRD11. Read More

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http://dx.doi.org/10.1002/ajmg.a.61611DOI Listing

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

J Neurol 2020 May 23. Epub 2020 May 23.

Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Straße 1, 30625, Hannover, Germany.

Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are motor neuron diseases sharing clinical, pathological, and genetic similarities. While biallelic SPG7 mutations are known to cause recessively inherited HSP, heterozygous SPG7 mutations have repeatedly been identified in HSP and recently also in ALS cases. However, the frequency and clinical impact of rare SPG7 variants have not been studied in a larger ALS cohort. Read More

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http://dx.doi.org/10.1007/s00415-020-09861-wDOI Listing

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Am J Med Genet A 2020 Jul 21;182(7):1697-1703. Epub 2020 May 21.

Department of Pediatrics, ASST-Lariana, "Sant'Anna" Hospital, Como, Italy.

Cornelia de Lange spectrum (CdLSp) is a rare genetic condition characterized by intellectual disability, facial dysmorphisms, major malformations, growth impairment, and development delay. Approximately 80% of CdLSp patients have gastroesophageal reflux disease (GERD) with a varied clinical presentation. The aim of this study is to define potential clinical/genetic risk factors based on the clinical phenotype description of CdLSp patients with severe GERD who underwent surgical treatment. Read More

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http://dx.doi.org/10.1002/ajmg.a.61625DOI Listing

Impact of the size of the normal database on the performance of the specific binding ratio in dopamine transporter SPECT.

EJNMMI Phys 2020 May 20;7(1):34. Epub 2020 May 20.

Department for Diagnostic and Interventional Radiology and Nuclear Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

Background: This study investigated the impact of the size of the normal database on the classification performance of the specific binding ratio (SBR) in dopamine transporter (DAT) SPECT with [I]FP-CIT in different settings.

Methods: The first subject sample comprised 645 subjects from the Parkinson's Progression Marker Initiative (PPMI), 207 healthy controls (HC), and 438 Parkinson's disease (PD) patients. The second sample comprised 372 patients from clinical routine patient care, 186 with non-neurodegenerative parkinsonian syndrome (PS) and 186 with neurodegenerative PS. Read More

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http://dx.doi.org/10.1186/s40658-020-00304-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239986PMC

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

Cell Rep 2020 May;31(7):107647

Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address:

The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange syndrome (CdLS). Here we report a MAU2 variant causing CdLS, a deletion of seven amino acids that impairs the interaction between MAU2 and the NIPBL N terminus. Read More

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http://dx.doi.org/10.1016/j.celrep.2020.107647DOI Listing

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Mol Genet Genomic Med 2020 Apr 26:e1263. Epub 2020 Apr 26.

Genomics Platform, Berlin Institute of Health, Berlin, Germany.

Background: Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis.

Methods, Results, And Conclusions: Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype-driven bioinformatic analysis method, PhenIX, utilizing targeted next-generation sequencing (NGS) data and Human Phenotype Ontology (HPO)-encoded phenotype data. Read More

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http://dx.doi.org/10.1002/mgg3.1263DOI Listing

[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):535-538

Department of Research and Molecular Diagnostics, Cancer Center, Sun Yat-sen University, Guangzhou, Guangdong 510060, China.

Objective: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS).

Methods: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.010DOI Listing

A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome.

Case Rep Pediatr 2020 8;2020:6482938. Epub 2020 Apr 8.

Universidad Francisco Marroquín School of Medicine, Guatemala City 01010, Guatemala.

Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects. It is caused by genetic variations in the chromatin regulator genes, most commonly, the cohesin complex. Even though molecular genetic testing is highly recommended to confirm the diagnosis, high costs and unavailability in some settings are significant setbacks, and clinical criteria could be used. Read More

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http://dx.doi.org/10.1155/2020/6482938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171661PMC

Successful guselkumab treatment in a psoriatic patient affected with Cornelia de Lange syndrome, and prosecution during the COVID-19 pandemic.

Dermatol Ther 2020 Apr 18:e13433. Epub 2020 Apr 18.

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

Psychomotor delay and intellectual disability are potential limitations in psoriasis management, due to low compliance, and strict dependence from caregivers intervention. We report our successful experience with a 58-year-old woman, who was genetically affected by Cornelia De Lange syndrome, which causes intellectual disability and psychomotor disorders. The patient had been already treated with topical and traditional therapies, without any clinical benefits. Read More

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http://dx.doi.org/10.1111/dth.13433DOI Listing

[Urology in the corona-virus pandemic-a guideline 4/20].

Urologe A 2020 Apr;59(4):442-449

Klinik für Urologie und Urochirurgie, Universitätsmedizin Mannheim, Universität Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Deutschland.

The coronavirus pandemic is a major challenge for healthcare systems worldwide. For urology, the expansion of the health-care structures for the treatment of patients suffering from COVID-19 should be supported as best as possible. At the same time, one should aim to ensure adequate care for urological emergencies and urgent urological treatments as far as possible, even during the pandemic. Read More

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http://dx.doi.org/10.1007/s00120-020-01200-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156798PMC

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.

J Hum Genet 2020 Aug 15;65(8):667-674. Epub 2020 Apr 15.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Chromothripsis is a type of chaotic complex genomic rearrangement caused by a single event of chromosomal shattering and repair processes. Chromothripsis is known to cause rare congenital diseases when it occurs in germline cells, however, current genome analysis technologies have difficulty in detecting and deciphering chromothripsis. It is possible that this type of complex rearrangement may be overlooked in rare-disease patients whose genetic diagnosis is unsolved. Read More

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http://dx.doi.org/10.1038/s10038-020-0754-6DOI Listing

Conserved roles of chromatin remodellers in cohesin loading onto chromatin.

Curr Genet 2020 Apr 10. Epub 2020 Apr 10.

Chromosome Segregation Laboratory, The Francis Crick Institute, London, UK.

Cohesin is a conserved, ring-shaped protein complex that topologically entraps DNA. This ability makes this member of the structural maintenance of chromosomes (SMC) complex family a central hub of chromosome dynamics regulation. Besides its essential role in sister chromatid cohesion, cohesin shapes the interphase chromatin domain architecture and plays important roles in transcriptional regulation and DNA repair. Read More

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http://dx.doi.org/10.1007/s00294-020-01075-xDOI Listing

Budd-Chiari syndrome.

Clin Res Hepatol Gastroenterol 2020 Apr 2. Epub 2020 Apr 2.

French Network for Rare Liver Diseases FILFOIE, Saint-Antoine Hospital, APHP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Department of Gastroenterology and Hepatology, Rangueil Hospital, University Hospital of Toulouse, 1, avenue du Professeur Jean-Poulhès, 31400 Toulouse, France.

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http://dx.doi.org/10.1016/j.clinre.2020.03.015DOI Listing

The multiple facets of the SMC1A gene.

Authors:
Antonio Musio

Gene 2020 Jun 25;743:144612. Epub 2020 Mar 25.

Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Pisa, Italy. Electronic address:

Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144612DOI Listing

[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):449-451

Department of Pediatrics, the First Affiliated Hospital of Wenzhou Medical University, Zhejiang 325015, China.

Objective: To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS).

Methods: Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.021DOI Listing

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Hum Genet 2020 May 19;139(5):575-592. Epub 2020 Mar 19.

Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands.

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. Read More

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http://dx.doi.org/10.1007/s00439-020-02138-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170815PMC

An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.

J Autism Dev Disord 2020 Mar 18. Epub 2020 Mar 18.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, 52 Pritchatts Road, Edgbaston, B15 2TT, UK.

We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with FXS (p < 0.01) and RTS (p < 0. Read More

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http://dx.doi.org/10.1007/s10803-020-04440-4DOI Listing

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Am J Med Genet A 2020 05 3;182(5):1143-1151. Epub 2020 Mar 3.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations, and complex chromosomal rearrangements (CCRs). We describe an infant with a clinical diagnosis of Cornelia de Lange syndrome (CdLS) in whom chromosome analysis revealed a de novo complex balanced translocation, 46,XY,t(5;7;6)(q11.2;q32;q13)dn. Read More

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http://dx.doi.org/10.1002/ajmg.a.61539DOI Listing

Thalamic Massa Intermedia in Children with and without Midline Brain Malformations.

AJNR Am J Neuroradiol 2020 04 27;41(4):729-735. Epub 2020 Feb 27.

From the Department of Radiology (M.T.W., N.N.), Children's National Hospital, Washington, DC.

Background And Purpose: The massa intermedia is a normal midline transventricular thalamic connection. Massa intermedia aberrations are common in schizophrenia, Chiari II malformation, X-linked hydrocephalus, Cornelia de Lange syndrome, and diencephalic-mesencephalic junction dysplasia, among others. We have noticed that massa intermedia abnormalities often accompany other midline malformations. Read More

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http://dx.doi.org/10.3174/ajnr.A6446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144630PMC

Cornelia de Lange syndrome: A rare case, presented with unilateral pes equinovarus.

J Clin Orthop Trauma 2020 Mar-Apr;11(2):307-309. Epub 2019 Apr 6.

Tepecik Training and Research Hospital, Department of Orthopaedics and Traumatology, İzmir, Turkey.

Cornelia de Lange syndrome is a genetic disorder with multiple system abnormalities. It is especially characterized by typical facial appearance and hirsutism. Growth and mental retardation, gastrointestinal, cardiovascular, and orthopedic abnormalities are other important features of this syndrome. Read More

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http://dx.doi.org/10.1016/j.jcot.2019.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026540PMC

De novo Mutations in Vietnamese Patients with Cornelia de Lange Syndrome.

Medicina (Kaunas) 2020 Feb 14;56(2). Epub 2020 Feb 14.

Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as variants in cohesin complex genes, in which mutations in the gene have been estimated to account for up to 80%. Our study included three Vietnamese patients with typical CdLS phenotypes. Read More

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http://dx.doi.org/10.3390/medicina56020076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073647PMC
February 2020
0.508 Impact Factor

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt technology, and its app Face2Gene, is having a growing impact on the diagnosis and management of genetic diseases by analysing the features of affected individuals. Read More

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http://dx.doi.org/10.3390/ijms21031042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038094PMC
February 2020

Agenesis of vocal cords in a child diagnosed with Cornelia de Lange syndrome: Time to relook or "time will tell".

Saudi J Anaesth 2020 Jan-Mar;14(1):136-137. Epub 2020 Jan 6.

Department of Burns and Plastic Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.

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http://dx.doi.org/10.4103/sja.SJA_576_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970356PMC
January 2020

Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without Deletion.

J Pediatr Genet 2020 Mar 3;9(1):53-57. Epub 2019 Sep 3.

Dysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.

Langer-Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the and genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where heterozygous mutations of gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701). We report a female patient with a 2. Read More

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http://dx.doi.org/10.1055/s-0039-1694779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976337PMC

Neural correlates of performance monitoring in adult patients with Gilles de la Tourette syndrome: A study of event-related potentials.

Clin Neurophysiol 2020 Mar 12;131(3):597-608. Epub 2019 Dec 12.

Department of Psychiatry, Socialpsychiatry and Psychotherapy, Hannover Medical School, Hannover, Germany.

Objectives: Gilles de la Tourette syndrome (GTS) is a neuropsychiatric condition characterized by motor and vocal tics. There is undoubtedly basal ganglia involvement, which are also important for cognitive processes including performance monitoring and interference resolution. We investigated these functions in adult patients with GTS compared to healthy controls (HCs). Read More

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http://dx.doi.org/10.1016/j.clinph.2019.11.019DOI Listing

A rare chromosomal disorder in a newborn: Trisomy 3q.

Turk J Pediatr 2019 ;61(2):271-274

Departments of Pediatric Hematology, Ankara Training and Research Hospital, Ankara, Turkey.

Kahvecioğlu D, Tatar-Aksoy H, Yıldız E, Bakır A, Alioğlu B. A rare chromosomal disorder in a newborn: Trisomy 3q. Turk J Pediatr 2019; 61: 271-274. Read More

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http://dx.doi.org/10.24953/turkjped.2019.02.018DOI Listing
January 2019

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Circulation 2020 Feb 16;141(6):429-439. Epub 2020 Jan 16.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.B., J.R.G., M.J.A.).

Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare variants implicated in LQT5 was sought through an international multicenter collaboration.

Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035205PMC
February 2020

Associated syndromes in patients with Pierre Robin Sequence.

Int J Pediatr Otorhinolaryngol 2020 Apr 30;131:109842. Epub 2019 Dec 30.

Pediatric ENT and Facial Plastic Surgery, Children's of Minnesota, University of Minnesota Department of Otolaryngology-Head and Neck Surgery, Minneapolis, MN, USA. Electronic address:

Objectives: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.109842DOI Listing

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.

Genet Med 2020 May 8;22(5):927-936. Epub 2020 Jan 8.

Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.

Purpose: Neurodevelopmental disorders represent a frequent indication for clinical exome sequencing. Fifty percent of cases, however, remain undiagnosed even upon exome reanalysis. Here we show RNA sequencing (RNA-seq) on human B-lymphoblastoid cell lines (LCL) is highly suitable for neurodevelopmental Mendelian gene testing and demonstrate the utility of this approach in suspected cases of Cornelia de Lange syndrome (CdLS). Read More

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http://dx.doi.org/10.1038/s41436-019-0741-5DOI Listing
May 2020
7.329 Impact Factor

[Cornelia de Lange syndrome caused by SMC1A gene variation in a child].

Zhonghua Er Ke Za Zhi 2020 01;58(1):60-62

Department of Ultrasound Echocardiogram, Gansu Provincial Maternity and Child-care Hospital, Lanzhou 730050, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.01.016DOI Listing
January 2020

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.

Mol Genet Genomic Med 2020 Feb 24;8(2):e1066. Epub 2019 Dec 24.

Key Laboratory of Endocrinology of National Health and Family Planning Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

Background: Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5-10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. Read More

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http://dx.doi.org/10.1002/mgg3.1066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005613PMC
February 2020

Scoping review of symptoms in children with rare, progressive, life-threatening disorders.

BMJ Support Palliat Care 2020 Mar 12;10(1):91-104. Epub 2019 Dec 12.

Department of Paediatrics, The University of British Columbia, Vancouver, British Columbia, Canada

Background: Q3 conditions are progressive, metabolic, neurological or chromosomal childhood conditions without a cure. Children with these conditions face an unknown lifespan as well as unstable and uncomfortable symptoms. Clinicians and other healthcare professionals are challenged by a lack of evidence for symptom management for these conditions. Read More

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http://dx.doi.org/10.1136/bmjspcare-2019-001943DOI Listing

Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes.

J Intellect Disabil Res 2020 Feb 11;64(2):117-130. Epub 2019 Dec 11.

Cerebra Centre for Neurodevelopmental disorders, School of Psychology, University of Birmingham, Birmingham, UK.

Background: There is growing evidence to suggest that children with neurodevelopmental disorders may evidence differences in their sensory processing. The aim of this study was to compare sensory processing patterns in three genetic syndromes associated with sensory difference.

Methods: Sensory processing in Angelman syndrome (n = 91), Cornelia de Lange syndrome (n = 28) and Fragile X syndrome (n = 40) was examined using the informant report measure the Sensory Experiences Questionnaire (SEQ). Read More

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http://dx.doi.org/10.1111/jir.12702DOI Listing
February 2020

Factors associated with frailty syndrome in the rural elderly.

Rev Bras Enferm 2019 Nov;72(suppl 2):14-21

Universidade Federal de Pelotas. Pelotas, Rio Grande do Sul, Brazil.

Objective: determine the prevalence and factors associated with frailty syndrome (FS) in the elderly in the rural population of Pelotas.

Method: Quantitative, analytical, transversal study conducted with 820 elderly subjects registered in the Family Health Strategy (FHS) in the rural area in the municipality of Pelotas, from July to October 2014.

Results: among those evaluated, 43. Read More

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http://dx.doi.org/10.1590/0034-7167-2017-0079DOI Listing
November 2019
5 Reads

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Clin Genet 2020 Jan 24;97(1):3-11. Epub 2019 Nov 24.

Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.

In recent years, many genes have been associated with chromatinopathies classified as "Cornelia de Lange Syndrome-like." It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Read More

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http://dx.doi.org/10.1111/cge.13674DOI Listing
January 2020

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.

J Med Genet 2020 May 8;57(5):289-295. Epub 2019 Nov 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy

Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in , , , and genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231464PMC

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Hum Mutat 2019 Oct 23. Epub 2019 Oct 23.

Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Read More

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http://dx.doi.org/10.1002/humu.23936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187541PMC
October 2019
1 Read

Neonates and infants requiring life-long cardiac pacing: How reliable are epicardial leads through childhood?

Int J Cardiol 2019 12 9;297:43-48. Epub 2019 Oct 9.

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

Background: In the literature, data is lacking on mid-term results of epicardial pacemaker implantation in neonates and infants. Our aim was to evaluate the mid-term results of epicardial pacemakers implanted in infants under 1 year of age.

Methods And Results: We conducted a retrospective review of patients who underwent pacemaker implantation between 2000 and 2017. Read More

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http://dx.doi.org/10.1016/j.ijcard.2019.10.008DOI Listing
December 2019

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome.

Authors:
Won Jae Kim

Yeungnam Univ J Med 2019 05 17;36(2):152-154. Epub 2018 Dec 17.

Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Korea.

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. Read More

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http://dx.doi.org/10.12701/yujm.2019.00066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784639PMC
May 2019
1 Read

Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome.

Yeungnam Univ J Med 2018 12 31;35(2):219-221. Epub 2018 Dec 31.

Department of Anesthesiology and Pain Medicine, Yeungnam University College of Medicine, Daegu, Korea.

Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway. The GlideScope video laryngoscope can be attempted during routine intubation, however it is mostly used in case of difficulty. With adequate preoperative airway assessment, we used the pediatric video laryngoscope as useful alternative airway device in a child with CdLS and orotracheal intubation proceeded uneventfully. Read More

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http://dx.doi.org/10.12701/yujm.2018.35.2.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784706PMC
December 2018

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.

J Neurodev Disord 2019 10 5;11(1):24. Epub 2019 Oct 5.

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

Background: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). Read More

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http://dx.doi.org/10.1186/s11689-019-9282-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778364PMC
October 2019
1 Read

Perioperative Management of a Patient With Cornelia de Lange Syndrome and Tetralogy of Fallot.

Anesth Prog 2019 ;66(3):159-161

Department of Dentistry for Children with Special Needs, Gunma Children's Medical Center, Shibukawa, Japan.

This is a case report of a 21-year-old male patient with Cornelia de Lange syndrome (CdL) and unrepaired tetralogy of Fallot scheduled for dental treatment under general anesthesia. Anticipated dental care consisted of restorative treatment and extractions. Surgical correction of the patient's congenital cardiac abnormalities had not occurred by the time of dental treatment. Read More

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http://dx.doi.org/10.2344/anpr-66-04-02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759639PMC
February 2020
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A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

J Autism Dev Disord 2020 Jan;50(1):127-144

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

Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Read More

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http://dx.doi.org/10.1007/s10803-019-04232-5DOI Listing
January 2020
2 Reads

The expanding phenotypes of cohesinopathies: one ring to rule them all!

Cell Cycle 2019 11 13;18(21):2828-2848. Epub 2019 Sep 13.

Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine , Montréal , QC , Canada.

Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. Read More

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https://www.tandfonline.com/doi/full/10.1080/15384101.2019.1
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http://dx.doi.org/10.1080/15384101.2019.1658476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791706PMC
November 2019
4 Reads

[Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Sep;36(9):910-913

Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000,

Objective: To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities.

Methods: Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.09.014DOI Listing
September 2019
3 Reads