Genetic Syndromes

A Comprehensive Reference Guide

Inbunden, Engelska, 2024

29 519 kr

Kommande

This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis.Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome.

Produktinformation

Utgivningsdatum2024-07-17
Mått178 x 254 x undefined mm
FormatInbunden
SpråkEngelska
Antal sidor8 970
FörlagSpringer Nature Switzerland AG
ISBN9783030383787

Tillhör följande kategorier

Medicinsk genetik inom Medicin
Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

Nima Rezaei, is a MD, PhD in Clinical Immunology and Human Genetics. Having finished his PhD he was awarded a fellowship in Clinical Immunology and Bone Marrow Transplantation, Paediatric Immunology and Infectious Diseases in Northern Supra Regional Bone Marrow Transplant Unit for SCID and Related Disorders, Newcastle General Hospital. He has since authored more than 500 publications, including the Springer, "Primary Immunodeficiency Diseases", Immunology of Aging" and "Cancer Immunology" series, to which he was awarded the 10th, 16th and 17th Avicenna Award for the book of the year. He was recognized as the distinguished young researcher to the prestigious Rhazi Award in in Medical Science Research on 2006 and 2012. In 2017 he was recognized by the National Academy of Medical Sciences, as “Iran’s Best Medical Researcher of the Past Decade’’. Iranian Primary Immunodeficiency Diseases Registry (IPIDR) since 1999, having more than thousands of PID and Paediatric Allergology and Immunology registered, is indeed one of his great scientific legacies.

Genetics Chromosomal defectsSingle gene mutationsAutosomal dominantAutosomal recessiveX-linked inheritanceY-linkedMitochondrialGenomic imprintingMultifactorialEpigeneticsDNA methylationHistone acetylation EnvironmentalInfectionsToxinsMedications and DrugsRadiationNutritional insufficiency Section 2: Congenital Syndromes classification: system Specific Normal feature syndromesChromosome XXX syndrome (super female)de la Chapelle syndrome (XX male syndrome)Auditory Auricular syndromesVelocardiofacial SyndromeAuricular-Auditory-Ophthalmic-Musculoskeletal syndromesHemifacial microsomiaCardiovascular syndromesBrugada syndromeLong QT syndrome (LQTS)Taussig–Bing syndromeCardiovascular-Gastrointestinal-Pulmonary syndromes<Heterotaxia syndromeCardiovascular-Gastrointestinal-Renal syndromesAlagille syndrome (Watson-Miller syndrome) (ICD-10: Q44.7)Cardiovascular-Cutaneous-Musculoskeletal syndromesArterial tortuosity syndromeCardiovascular-Cutaneous-Ophthalmic-Pulmonary-Urogenital syndromesLEOPARD syndromeCardiovascular-Craniofacial syndromesAortic arch anomaly-peculiar facies-mental retardation syndromeAsymmetric crying facies (ACF) (Cayler cardiofacial syndrome, partial unilateral facial paresis)Cardiofacial syndrome (Cayler syndrome)Conotruncal anomaly face syndrome (CTAF)Cardiovascular-Endocrine-Neurologic syndromesMalouf syndromeCardiovascular-Hematologic-Neurologic syndromesSkeletal and cardiac malformations-thrombocytopenia syndromeCardiovascular-Neurologic syndromesErondu–Cymet syndromeMicrocephaly-cardiomyopathy syndromeCardiovascular-Sensorineural syndromesJervell and Lange-Nielsen syndrome (JLNS)Craniofacial syndromesAblepharon macrostomia syndromeHall syndrome 1 Hughes syndrome (Acromegaloid facial appearance (AFA) syndrome)Keppen–Lubinsky syndromeOpitz trigonocephaly syndrome (C syndrome) < Neuroblastoma-multiple congenital anomalies-mental retardation syndromeHematologic-Sensorineural syndromesFechtner syndromeImmunologic syndromesMonoMAC syndromeNezelof syndromeOmenn syndromeImmunologic-Cardiovascular-Craniofacial-Endocrine syndromesDiGeorge syndrome (DGS)Immunologic-Craniofacial syndromesICF syndrome (Immunodeficiency-Centromere instability-Facial anomalies syndrome)Immunologic-Craniofacial-Neurologic syndromesImmunodeficiency-centromeric instability-facial anomalies (ICF) syndromeImmunologic-Craniofacial- Cutaneous-Neurologic-Ophthalmic syndromesVici syndromeImmunologic-Cutaneous SyndromesChronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndromeGriscelli syndromeHyperimmunoglobulinemia E syndromeWHIM Syndrome (Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome)Immunologic-Cutaneous-Hematologic SyndromesTEMPI SyndromeImmunologic-Cutaneous-Neurologic SyndromesAtaxia telangiectasia variant 1 (AT-V1) (Berlin breakage syndrome)Chédiak–Higashi syndrome Musculoskeletal syndromesAchard syndromeAcropectoral syndromeArthrogryposis multiplex congenita (AMC)Currarino syndromePseudohypertrophic progressive muscular dystrophy (Becker dystrophy, Duchenne syndrome)Desbuquois syndromeGuérin-Stern syndromeIonasescu syndrome (Charcot-Marie syndrome, X-linked recessive, Type II)Klippel–Feil syndromeLethal congenital contracture syndrome 1 (LCCS1)Liebenberg SyndromeLimb-girdle muscular dystrophy (LGMD)Marie-Sainton syndrome (Cleidocranial dysplasia (CCD, CLCD))Osteodysplastic primordial dwarfismPoland syndromeSpondylometaphyseal dysplasia-short limb-abnormal calcification syndromeSpondyloperipheral dysplasiaTetra-amelia syndromeThanatophoric dysplasia (TD)Wallis–Zieff–Goldblatt syndrome (Cleidorhizomelic syndrome)Worth syndrome X-linked myotubular myopathy (XLMTM, MTMX) (centronuclear myopathy (CNM))Musculoskeletal-Auditory syndromeDystonia-deafness syndromeMusculoskeletal-Cardiovascular syndromesEhlers–Danlos syndrome (EDS)Holt–Oram syndromeLarsen syndrome (LS)Musculoskeletal-Cardiovascular-Gastrointestinal syndromesMicrocephaly-oculo-digito-esophageal-duodenal (MODED) syndrome ( Feingold syndrome)Musculoskeletal-Cardiovascular-Ophthalmic syndromesFrank ter Haar-syndrome< Musculoskeletal-Cardiovascular-Pulmonary syndromesYunis–Varon syndrome (YVS)Musculokeletal-Craniofacial syndromesGreig cephalopolysyndactyly (GCPS) syndrome (Greig syndrome, Hootnick-Holmes syndrome)Hajdu-Cheney syndrome (HCS) (Cheney syndrome)Impossible Syndrome (Chondrodysplasia-situs inversus-imperforate anus-polydactyly)Multiple synostoses syndrome <Schmitt Gillenwater Kelly syndromeMusculoskeletal-Cutaneous-Hematologic syndromeMaffucci syndromeMusculoskeletal-Cutaneous-Ophthalmic syndromesSHORT syndromeMusculoskeletal-Cutaneous-Urogenital syndromesSilver-Russell syndrome (SRS)Musculoskeletal-Gastrointestinal-Cardiovascular-Pulmonary-Renal syndromesVACTERL (vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb defects) association with hydrocephalus syndromeVATER (vertebral defects-anal atresia-tracheoesophageal fistula-esophageal atresia-radial and renal dysplasia) association or syndrome (Kaufman syndrome)Musculoskeletal-Gastrointestinal-Urogenital syndromesJohnson–Munson syndromeMusculoskeletal-Ophthalmic-Neurologic syndromesCAMFAK (cataract-microcephaly-failure to thrive-kyphoscoliosis) syndrome (Cockayne syndrome 2, Lowry syndrome 2)Schwartz-Jampel syndrome (SJS) (Aberfeld syndrome)Musculoskeletal-Neurologic syndromesArkless-Graham syndrome (Acrodysostosis)Acrofacial dysostosis (ACD), Catania typeAcrofrontofacionasal (AFFN) dysostosis syndrome 1Charcot–Marie–Tooth disease (CMT)Erb-Charcot syndrome (spastic paraplegia (SP))HyperglycerolemiaHutterite cerebro-osteo-nephrodysplasiaJancar syndromeKeutel syndrome 2Lujan-Fryns syndromeMarfanoid habitus-mental retardation syndromeMixed sclerosing bone dysplasia-small stature-seizures-mental retardation syndromeRadio-ulnar synostosis-short stature-microcephaly-scoliosis-mental retardation syndromeRadioulnar synostosis-developmental retardation-hypotonia syndromeShort stature-microcephaly-syndactyly-dysmorphic face-mental retardation syndromeSpinal muscular atrophy-mental retardation syndromeSpondylo-epiphyseal dysplasia tarda-mental retardation syndromeTroyer syndrome (TS)Wieacker-Wolff syndromeMusculoskeletal-Neurologic-Cardiovascular-Ophthalmic syndromesMarfan syndrome (MFS)Musculoskeletal-Neurologic-Cardiovascular-Urogenital syndromesSmith-Lemli-Opitz (SLO) syndrome I (SLOS I) (RSH syndrome)Musculoskeletal-Neurologic-Cardiovascular-Renal syndromesPretzel syndromeMusculoskeletal-Neurologic-Cutaneous syndromesDubowitz syndrome 1Fitzsimmons syndromeGrowth retardation-small and puffy hands-eczema syndromeGrubben syndromePatterson syndromeUlnar hypoplasia-club feet-mental retardation syndromeMusculoskeletal-Neurologic-Cutaneous-Endocrine-Cardiovascular syndromesJaffe-Campanacci syndromeMusculoskeletal-Neurologic-Cutaneou-Auditory syndromesMacrocephaly-hypertelorism-short limbs-hearing loss-developmental delay syndromeMusculoskeletal-Neurologic-Endocrine-Gastrointestinal syndromesFryns syndromeMusculoskeletal-Neurologic-Gastrointestinal syndromesJeune syndromeMusculoskeletal-Neurologic-Audiovisual syndromesBrachydactyly-dwarfism-hearing loss-microcephaly-mental retardation syndromeMusculoskeletal-Neurologic-Auditory syndromesCowchock syndromeMusculoskeletal-Neurologic-Gastrointestinal-Ophthalmic syndromesMulibrey (muscle-liver-brain-eye) nanism or dwarfism (Perheentupa syndrome)Musculoskeletal-Neurologic-Ophthalmic syndromesBhaskar–Jagannathan syndromeChondrodysplasia-pseudohermaphrodism syndromeCoffin syndrome 1Microcephaly-muscular build-rhizomelia-cataracts syndromeOsteoporosis-pseudoglioma syndrome (OPS)Spastic quadriplegia-retinitis pigmentosa-mental retardation syndromeMusculoskeletal-Neurologic-Ophthalmic-Auditory syndromesDislocated elbow-bowed tibiae-scoliosis-deafness-cataract-microcephaly-mental retardation syndromeMohr-Tranebjaerg syndrome (MTS)Musculoskeletal-Neurologic-Pulmonary syndromesMarshall-Smith SyndromeStüve-Wiedemann (SW) syndrome (SWS)Musculoskeletal-Neurologic- renal syndromesEronen syndromeMarfanoid habitus-microcephaly-glomerulonephritis syndromeMusculoskeleal-Ophthalmic-Endocrine syndromesChromosome Xp21 deletion syndromeMusculoskeletal-Ophthalmic-Renal syndromesAcroreno-ocular syndromeMusculoskeletal-Renal syndromes Exner syndrome (Serpentine fibula-polycystic kidney syndrome)Musculoskeletal-Auriculoocular syndromesFine-Lubinsky syndromeMusculoskeletal-Urogenital syndromesHand-foot-genital syndrome (HFGS)Musculoskeleta-Vascular-Cutaneous syndromesKlippel-Trénaunay-Weber (KTW) syndrome (Parkes Weber syndrome)Neurologic and mental syndromes <Neurologic-Vascular-Gastrointestinal syndromes Ruvalcaba-Myhre-Smith syndrome (RMSS)Ophthalmic syndromesAscher's syndromeBlepharonasofacial syndrome (Pashayan-Pruzansky syndrome)Brown's syndromeCataract-microcornea syndromeFukuyama syndromeGraham syndromeJalili syndromeLeber congenital amaurosis (LCA)Lenz syndrome 2Senior–Løken syndromeOphthalmic-Auditory-Cardiovascular syndromesCongenital rubella syndrome (CRS)Ophthalmic-Auditory-Cutaneous-Neurologic syndromesWaardenburg syndromeOphthalmic-Cardiovascular-Gastrointestinal-Urologic syndromesCat eye syndrome (CES) (Schmid-Fraccaro syndrome)Ophthalmic-Craniofacial-Endocrine-Neurologic syndromesKearns–Sayre syndromeOphthalmic-Craniofacial syndromesStickler syndromeOphthalmic-Craniofacial-Cutaneous syndromesHermansky–Pudlak syndrome (HPS)