In this title, Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 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. "The Atlas of Genetic Diagnosis and Counseling" will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders.
New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.
Acardia Achondrogenesis Achondroplasia Adams-Oliver syndrome Agnathia Aicardi syndrome Alagille syndrome Albinism Alpha thalassemia-mental retardation (ATR-X) syndrome Ambiguous genitalia Amniotic deformity, adhesions, mutilations (ADAM) syndrome Androgen insensitivity syndrome Angelman syndrome Apert syndrome Aplasia cutis congenita Arthrogryposis multiplex congenita Asphyxiating thoracic dystrophy Ataxia telangiectasia Atelosteogenesis Autism Bannayan-Riley-Ruvalcaba syndrome Beckwith-Wiedemann syndrome Behcet disease Biotinidase deficiency Bladder exstrophy Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) Body stalk anomaly Brachydactyly Branchial cleft cyst Calcinosis cutis Campomelic dysplasia Carpenter syndrome Cat-eye syndrome Celiac disease Cerebral palsy Cerebro-costo-mandibular syndrome Charcot-Marie-Tooth disease CHARGE association Cherubism Chiari malformation Chondrodysplasia punctata Chromosome abnormalities in pediatric solid tumors Cleft lip/palate Cleidocranial dysplasia Cloacal exstrophy Clubfoot (talipes equinovarus) Collodion baby Congenital adrenal hyperplasia Congenital cutis laxa Congenital cytomegalovirus infection Congenital generalized lipodystrophy Congenital hemihyperplasia (congenital hemihypertrophy) Congenital hydrocephalus Congenital hypothyroidism Congenital muscular dystrophy Congenital toxoplasmosis Conjoined twins Corpus-callosum agenesis/dysgenesis Craniometaphyseal dysplasia Cri-du-chat syndrome Crouzon syndrome Cutis marmorata telangiectatica congenita Cystic fibrosis Dandy-Walker malformation De Lange syndrome Del(18p) syndrome Del(22q11.2) syndrome Del(Yq) syndrome Diabetic embryopathy Down syndrome Duncan syndrome (X-linked lymphoproliferative disease) Dyschondrosteosis/Langer mesomelic dysplasia Dysmelia (limb deficiency/reduction) Dysplasia epiphysealis hemimelica Dystonia Dystrophinopathies EEC syndrome Ehlers-Danlos syndrome Ellis-van Creveld syndrome Enchondromatosis Epidermolysis bullosa Epidermolytic palmoplantar keratoderma Faciogenital (Aarskog) syndrome Facioscapulohumeral muscular dystrophy (FSH) Familial adenomatous polyposis syndrome Familial hyperlysinemia Familial Mediterranean fever Fanconi anemia Femoral hypoplasia-unusual facies syndrome Fetal akinesia syndrome Fetal alcohol syndrome Fetal hydantoin syndrome Fibrodysplasia ossificans progressiva Finlay-Marks syndrome Floppy infant Fragile X syndrome Fraser syndrome Freeman-Sheldon (whistling face) syndrome Friedreich ataxia Frontonasal dysplasia Galactosemia Gastroschisis Gaucher disease Generalized arterial calcification Genitopatellar syndrome Giant congenital melanocytic nevi (giant congenital nevi) Glucose-6-phosphate dehydrogenase deficiency Glycogen storage disease, type II (Pompe) Goldenhar syndrome Gorlin (nevoid basal cell carcinoma) syndrome Greig cephalopolysyndactyly syndrome Hallermann-Streiff syndrome Harlequin fetus Hemophilia A Hereditary hearing loss Hereditary hemochromatosis Hereditary multiple exostosis Herlyn-Werner-Wunderlich syndrome Holoprosencephaly Holt-Oram syndrome Huntington disease Hydrolethalus syndrome Hydrops fetalis Hyper-IgE syndrome Hypochondroplasia Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome Hypohidrotic ectodermal dysplasia Hypomelanosis of Ito Hypophosphatasia Hypopituitarism I(1p),I(1q) syndrome Isodic(Yq) syndrome Incontinentia pigmenti Infantile myofibromatosis Ivemark syndrome Jarcho-Levin syndrome Joubert syndrome Kabuki syndrome Kassback-Merritt syndrome KID syndrome Klinefelter syndrome Klippel-Feil syndrome Klippel-Trenaunay syndrome Kniest dysplasia Larsen syndrome LEOPARD syndrome Lesch-Nyhan syndrome Lethal multiple pterygium syndrome Loeys-Dietz syndrome Lowe syndrome Marfan syndrome McCune-Albright syndrome Meckel-Gruber syndrome Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) Menkes disease Metachromatic leukodystrophy Miller-Dieker syndrome Mitochondrial Leber hereditary optic neuropathy Mobius syndrome Mowat-Wilson Disease Mucolipidosis II (I-cell disease) Mucolipidosis III (pseudo-Hurler Polydystrophy) MPS I (Hurler syndrome) MPS II (Hunter syndrome) MPS III (Sanfilippo syndrome) MPS IV (Morquio syndrome) MPS VI (Maroteaux-Lamy syndrome) Multiple endocrine neoplasia Syndrome Multiple epiphyseal dysplasia Multiple pterygium syndrome Myotonic dystrophy Nail-Patella Syndrome (hereditary Osteo-onychodysplasia) Neonatal Herpes simplex infection Nephrogenic diabetes insipidus Netherton syndrome Neu-Laxova syndrome Neural tube defects Neurofibromatosis 1 Neurofibromatosis 2 Noonan syndrome Oblique facial cleft syndrome Oligohydramnios sequence Omphalocele Oro-Facial-Digital Syndrome Osteogenesis imperfecta Osteopetrosis Osteopoikilosis Otopalatodigital spectrum disorders Pachyonychia congenita Pallister-Killian syndrome Phenylketonuria (PKU) Pierre Robin sequence Polycystic kidney disease, AD form Polycystic kidney disease, AR form Popliteal pterygium syndrome Prader-Willi syndrome Progeria Prune belly syndrome Pseudoachondroplasia R(18) syndrome Retinoid embryopathy Rett syndrome Rickets Rigid spine syndrome Roberts syndrome Robinow syndrome Rubinstein-Taybi syndrome Saethre-Chotzen syndrome Sagittal synostosis associated with chromosome abnormalities Schizencephaly Schmid metaphyseal chondrodystrophy Seckel syndrome Severe combined immune deficiency Short rib polydactyly syndromes (SRPS) Sickle cell disease Silver-Russell syndrome Sirenomelia Smith-Lemli-Optiz syndrome Smith-Magenis syndrome Sotos syndrome Spinal muscular atrophy Spondyloepiphyseal dysplasia Stickler syndrome Sturge-Weber syndrome Tay-Sachs disease Tetrasomy 9p syndrome Thalassemia Thanatophoric dysplasia Thrombocytopenia-absent radius (TAR) syndrome Treacher-Collins syndrome Trimethylaminuria Triploidy Trismus pseudocamptodactyly (Hecht syndrome) Trisomy 8 mosaicism (Warkany) syndrome Trisomy 13 syndrome Trisomy 18 syndrome Tuberous sclerosis Turner syndrome Twin-twin transfusion syndrome Ulnar-mammary syndrome Urofacial (Ochoa) Syndrome VATER (VACTERL) associationVon Hippel-Lindau disease Waardenburg syndrome Weill-Marchesani syndrome Williams syndrome Wolf-Hirschhorn syndrome X-linked agammaglobulinemia (Bruton type) X-linked ichthyosis XX Male XXX syndrome XXXXX syndrome XXXXY syndrome XY female XYY syndrome