Full Description
Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients.
Contents
AcardiaAchondrogenesisAchondroplasiaAdams-Oliver SyndromeAgnathiaAicardi SyndromeAlagille SyndromeAlbinismAlpha-Thalassemia X-linked Mental Retardation SyndromeAmbiguous GenitaliaAmniotic Deformity, Adhesions, Mutilations (ADAM) ComplexAndrogen Insensitivity SyndromeAngelman SyndromeApert SyndromeAplasia Cutis CongenitaArthrogryposis Multiplex CongenitaAsphyxiating Thoracic DystrophyAtaxia-TelangiectasiaAtelosteogenesisAutismBannayan-Riley-Ruvalcaba SyndromeBeckwith-Wiedemann SyndromeBehcet DiseaseBiotinidase DeficiencyBladder ExstrophyBlepharophimosis, Ptosis, and Epicanthus Inversus SyndromeBody Stalk AnomalyBrachydactylyBranchial Cleft AnomaliesCalcinosis CutisCampomelic DysplasiaCarpenter SyndromeCat Eye SyndromeCeliac DiseaseCerebral PalsyCerebro-Costo-Mandibular SyndromeCharcot-Marie-Tooth DiseaseCHARGE SyndromeCherubismChiari MalformationChondrodysplasia PunctataChromosome Abnormalities in Pediatric Solid TumorsCleft Lip and/or Cleft PalateCleidocranial DysplasiaCloacal ExstrophyClubfootCollodion BabyCongenital Adrenal HyperplasiaCongenital Cutis LaxaCongenital Cytomegalovirus InfectionCongenital Generalized LipodystrophyCongenital HemihyperplasiaCongenital HydrocephalusCongenital HypothyroidismCongenital Muscular DystrophyCongenital ToxoplasmosisConjoined TwinsCorpus Callosum Agenesis/DysgenesisCraniometaphyseal DysplasiaCri-Du-Chat SyndromeCrouzon SyndromeCutaneous VasculitisCutis Marmorata Telangiectatica CongenitaCystic FibrosisDandy-Walker MalformationDe Lange SyndromeDel(18p) SyndromeDel(22q11.2) SyndromeDel(Yq) SyndromeDiabetic EmbryopathyDuncan SyndromeDyschondrosteosisDysmeliaDysplasia Epiphysealis HemimelicaDystoniaDystrophinopathiesEctrodactyly-Ectodermal Dysplasia-Clefting (EEC) SyndromeEhlers-Danlos SyndromeEllis-van Creveld SyndromeEnchondromatosisEpidermolysis BullosaEpidermolytic Palmoplantar KeratodermaFaciogenital (Faciodigitogenital) DysplasiaFacioscapulohumeral Muscular DystrophyFamilial Adenomatous PolyposisFamilial HyperlysinemiaFamilial Mediterranean FeverFamilial Patella InstabilityFamilial Spastic ParaplegiaFanconi AnemiaFeingold SyndromeFemoral Hypoplasia - Unusual Facies SyndromeFetal Akinesia Deformation SequenceFetal Alcohol Spectrum DisordersFetal Hydantoin SyndromeFibrodysplasia Ossificans ProgressivaFibular HemimeliaFinlay-Marks SyndromeFloppy InfantFragile X SyndromeFraser SyndromeFreeman-Sheldon SyndromeFriedreich AtaxiaFrontonasal DysplasiaGalactosemiaGastroschisisGaucher DiseaseGeneralized Arterial Calcification of InfancyGenitopatellar SyndromeGiant Congenital Melanocytic NeviGilbert SyndromeGlucose-6-Phosphate Dehydrogenase DeficiencyGlycogen Storage Disease, Type 2Goldenhar SyndromeGorlin SyndromeGreig Cephalopolysyndactyly SyndromeGrowth Hormone DeficiencyHallermann-Streiff SyndromeHarlequin IchthyosisHemangiomas of InfancyHemophilia AHereditary Hearing LossHereditary HemochromatosisHereditary Multiple ExostosesHereditary Sensory and Autonomic NeuropathiesHerlyn-Werner-Wunderlich SyndromeHoloprosencephalyHolt-Oram SyndromeHuntington DiseaseHydranencephalyHydrolethalus SyndromeHydrops FetalisHyper-IgE SyndromeHypertrophic Cardiomyopathy (HCM)HypochondroplasiaHypoglossia-Hypodactylia SyndromeHypohidrotic Ectodermal DysplasiaHypomelanosis of ItoHypophosphatasiaHypopituitarismI(1p), I(1q) SyndromeIdic(Yq) SyndromeIncontinentia PigmentiInfantile MyofibromatosisIvemark SyndromeJarcho-Levin SyndromeJoubert SyndromeKabuki SyndromeKasabach-Merritt SyndromeKID SyndromeKlinefelter SyndromeKlippel-Feil SyndromeKlippel-Trenaunay SyndromeKniest DysplasiaLarsen SyndromeLEOPARD SyndromeLesch-Nyhan SyndromeLethal Multiple Pterygium SyndromeLoeys-Dietz SyndromeLowe SyndromeLymphangiomas and LymphangiomatosisMoebius SyndromeMacrodactylyMarfan SyndromeMcCune-Albright SyndromeMeckel-Gruber SyndromeMegalencephalic Leukoencephalopathy with Subcortical CystsMenkes DiseaseMetachromatic LeukodystrophyMiller-Dieker SyndromeMitochondrial Leber Hereditary Optic NeuropathyMitochondrial MyopathyMowat-Wilson SyndromeMucolipidosis 2Mucolipidosis 3Mucopolysaccharidosis 1 (MPS 1)Mucopolysaccharidosis 2Mucopolysaccharidosis 3Mucopolysaccharidosis 4Mucopolysaccharidosis 6Multiple Endocrine Neoplasia SyndromesMultiple Epiphyseal DysplasiaMultiple Pterygium SyndromeMyotonic Dystrophy Type 1Nager Acrofacial DysostosisNail-Patella SyndromeNasal Obstruction in Neonates and ChildrenNeonatal Herpes Simplex InfectionNephrogenic Diabetes InsipidusNetherton SyndromeNeu-Laxova SyndromeNeural Tube DefectsNeurofibromatosis 1Neurofibromatosis 2Niemann-Pick DiseaseNoonan SyndromeOblique Facial Cleft SyndromeOligohydramnios SequenceOmphaloceleOpitz Trigonocephaly (C) SyndromeOral-Facial-Digital SyndromeOsteogenesis ImperfectaOsteogenesis Imperfecta Ehlers-Danlos Overlap SyndromeOsteopetrosisOsteopoikilosisOtopalatodigital Spectrum DisordersPachyonychia CongenitaPallister-Killian SyndromePeutz-Jeghers SyndromePhenylketonuriaPierre Robin SequencePolycystic Kidney Disease, Autosomal Dominant TypePolycystic Kidney Disease: Autosomal Recessive TypePopliteal Pterygium SyndromePrader-Willi SyndromePrimary MicrocephalyProgeriaPrune Belly SyndromePseudoachondroplasiaR(18) SyndromeRadioulnar SynostosisRetinoid EmbryopathyRett SyndromeRicketsRigid Spine SyndromeRoberts SyndromeRobinow SyndromeRubinstein-Taybi SyndromeSaethre-Chotzen SyndromeSagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on CraniosynostosisSchizencephalySchmid Metaphyseal ChondrodysplasiaSeckel SyndromeSevere Combined Immune DeficiencyShort Rib-Polydactyly SyndromesSickle Cell DiseaseSilver-Russell SyndromeSirenomeliaSmith-Lemli-Opitz SyndromeSmith-Magenis SyndromeSotos SyndromeSpinal Muscular AtrophySpondyloepiphyseal DysplasiaStickler SyndromeSturge-Webber SyndromeSymphalangismTay-Sachs DiseaseTetrasomy 9p SyndromeThalassemiaThanatophoric DysplasiaThrombocytopenia-Absent Radius SyndromeTreacher-Collins SyndromeTrimethylaminuriaTriploidyTrismus-Pseudocamptodactyly SyndromeTrisomy 13 SyndromeTrisomy 18 SyndromeTrisomy 8 Mosaicism SyndromeTuberous SclerosisTurner SyndromeTwin-Twin Transfusion SyndromeTyrosinemiaUlnar-Mammary SyndromeUrofacial SyndromeVATER (VACTERL) AssociationVon Hippel-Lindau DiseaseWaardenburg SyndromeWeill-Marchesani SyndromeWilliams SyndromeWinchester syndromeWolf-Hirschhorn SyndromeX-Linked AgammaglobulinemiaX-Linked IchthyosisXX MaleXXX SyndromeXXXXX SyndromeXXXXY SyndromeXY FemaleXYY Syndrome
