Atlas of genetic diagnosis and counseling /
"A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis,...
Main Author: | |
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Format: | Book |
Language: | English |
Published: |
Totowa, N.J. :
Humana Press,
c2006
Totowa, N.J. : ©2006 |
Subjects: |
Table of Contents:
- Arcadia
- Achondrogenesis
- Achondroplasia
- Adams-Oliver syndrome
- Agnathia
- Aicardi syndrome
- Alagille syndrome
- Albinism
- Amniotic band syndrome
- Androgen insensitivity syndrome
- Angelman syndrome
- Apert syndrome
- Aplasia cutis congenita
- Arthrogryposis multiplex congenita
- Asphyxiating thoracic dystrophy
- Ataxia telangiectasia
- Atelosteogenesis
- Autism
- Beckwith-Wiedemann syndrome
- Behcet disease
- Bladder exstrophy
- Body stalk anamoly
- Branchial clefts anamolies
- Campomelic dysplasia
- Cat eye syndrome
- Cerebro-costo-mandibular syndrome
- Charcot-Marie-Tooth disease
- CHARGE Association
- Cherubism
- Chiari malformation
- Chondrodysplasia punctata
- Chromosome abnormalities in pediatric solid tumors
- Cleft lip and/or cleft palate
- Cleidocranial dysplasia
- Cloacal exstrophy
- Collodion baby
- Congenital adrenal hyperplasia (21-hydroxylase deficiency)
- Congenital cutis laxa
- Congenital cytomegalovirus infection
- Congenital generalized lipodystrophy
- Congenital hydrocephalus
- Congenital hypothyriodism
- Congenital muscular dystrophy
- Congenital toxoplasmosis
- Conjoined twins
- Corpus callosum agenesis/dysgenesis
- Craniometaphysical dysplasia
- Cri-du-chat syndrome
- Crouzon syndrome
- Cystic fibrosis
- Dandy-Walker malformation
- De Lange syndrome
- Del(22q11.2) syndromes
- Diabetic embryopathy
- Down syndrome
- Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia
- Dysmelia (limb deficiency/reduction)
- Dysplasia epiphysealis hemimelica
- Dystonia
- Dystrophinopathies
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
- Dhlers-Danlos syndrome
- Ellis-van Creveld syndrome
- Enchondromatosis (Maffucci syndrome; Ollier syndrome)
- Epidermolysis bullosa
- Epidermolytic palmoplantar keratoderma
- Faciogenital (Aarskog) dysplasia
- Facioscapulohumeral muscular dystrophy
- Familial adenomatous polyposis
- Familial hyperlysinemia
- Fanconi anemia
- Femoral hypoplasia-unusual facies syndrome
- Fetal akinesia syndrome
- Fetal alcohol syndrome
- Fibrodysplasia ossificans progressiva
- Finlay-Marks syndrome
- Fragile X syndrome
- Fraser syndrome
- Freeman-Sheldon syndrome
- Frontonasal dysplasia
- Galactosemia
- Gastroschisis
- Gaucher disease
- Generalized arterial calcification of infancy
- Glucose 6-phosphate dehydrogenase deficiency
- Glycogen storage disease, type II
- Goldenhar syndrome
- Hallermann-Streiff syndrome
- Harlequin ichthyosis (harlequin fetus)
- Hemophilia A
- Hereditary hemochromatosis
- Hereditary multiple exostoses
- Holoprosencephaly
- Holt-Oram syndrome
- Hydrops fetalis
- Hyper-IgE syndrome
- Hypochondroplasia
- Hypoglossia-hypodactylia syndrome
- Hypohidrotic ectodermal dysplasia
- Hypomelanosis of Ito
- Hypophosphatasia
- Incontinentia pigmenti
- Infantile myofibromatosis
- Ivemark syndrome
- Jarcho-Levin syndrome
- Kabuki syndrome
- Kasabach-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
- Lowe syndrome
- Marfan syndrome
- McCune-Albright syndrome
- Meckel-Gruber syndrome
- Menkes disease (Kinky-hair syndrome)
- Metachromatic leukodystrophy
- Miller-Dieker syndrome
- Möbius syndrome
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes
- Mucopolysaccharidosis II (Hunter syndrome)
- Mucopolysaccharidosis III (Sanfilippo syndrome)
- Mucopolysaccharidosis IV (Morquio syndrome)
- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
- Multiple epiphyseal dysplasia
- Multiple pterygium syndrome
- Myotonic dystrophy type I
- Netherton syndrome
- Neu-Laxova syndrome
- Neural tube defects
- Neurofibromatosis I
- Noonan syndrome
- Oblique facial cleft syndrome
- Oligohydramnios sequence
- Omphalocele
- Osteogenesis imperfecta
- Osteopetrosis
- Pachyonychia congenita
- Pallister-Killian syndrome
- Phenylketonuria (PKU)
- Pierre Robin sequence
- Polycystic kidney disease, autosomal dominant type
- Polycystic kidney disease, autosomal recessive type
- Prader-Willi syndrome
- Progeria
- Prune belly syndrome
- Pseudoachondroplasia
- R(18) syndrome
- Retinoid embyopathy
- Rett syndrome
- Rickets
- Roberts syndrome
- Robinow syndrome
- Rubinstein-Taybi syndrome
- Schizencephaly
- Schmid metaphyseal chondrodysplasia
- Seckel syndrome
- Severe combined immune deficiency
- Short rib polydactyly sydromes
- Sickle cell disease
- Silver-Russell syndrome
- Sirenomelia
- Smith-Lemli-Opitz 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 syndrome
- Treacher-Collins syndrome
- Trimethylaminuria
- Triploidy
- Trismus pseudocamptodactyly syndrome
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- Tuberous sclerosis
- Turner syndrome
- Twin-twin transfusion syndrome
- Ulnar-mammary syndrome
- VATER (VACTERL) Association
- Von Hippel-Lindau disease
- Waardenburg syndrome
- Williams syndrome
- Wolf-Hirschhorn syndrome
- X-linked ichthyosis
- XXX syndrome
- XXXXX syndrome
- XXXXY syndrome
- XY female
- XYY syndrome
- Arcadia
- Achondrogenesis
- Achondroplasia
- Adams-Oliver syndrome
- Agnathia
- Aicardi syndrome
- Alagille syndrome
- Albinism
- Amniotic band syndrome
- Androgen insensitivity syndrome
- Angelman syndrome
- Apert syndrome
- Aplasia cutis congenita
- Arthrogryposis multiplex congenita
- Asphyxiating thoracic dystrophy
- Ataxia telangiectasia
- Atelosteogenesis
- Autism
- Beckwith-Wiedemann syndrome
- Behcet disease
- Bladder exstrophy
- Body stalk anamoly
- Branchial clefts anamolies
- Campomelic dysplasia
- Cat eye syndrome
- Cerebro-costo-mandibular syndrome
- Charcot-Marie-Tooth disease
- CHARGE Association
- Cherubism
- Chiari malformation
- Chondrodysplasia punctata
- Chromosome abnormalities in pediatric solid tumors
- Cleft lip and/or cleft palate
- Cleidocranial dysplasia
- Cloacal exstrophy
- Collodion baby
- Congenital adrenal hyperplasia (21-hydroxylase deficiency)
- Congenital cutis laxa
- Congenital cytomegalovirus infection
- Congenital generalized lipodystrophy
- Congenital hydrocephalus
- Congenital hypothyriodism
- Congenital muscular dystrophy
- Congenital toxoplasmosis
- Conjoined twins
- Corpus callosum agenesis/dysgenesis
- Craniometaphysical dysplasia
- Cri-du-chat syndrome
- Crouzon syndrome
- Cystic fibrosis
- Dandy-Walker malformation
- De Lange syndrome
- Del(22q11.2) syndromes
- Diabetic embryopathy
- Down syndrome
- Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia
- Dysmelia (limb deficiency/reduction)
- Dysplasia epiphysealis hemimelica
- Dystonia
- Dystrophinopathies
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
- Dhlers-Danlos syndrome
- Ellis-van Creveld syndrome
- Enchondromatosis (Maffucci syndrome; Ollier syndrome)
- Epidermolysis bullosa
- Epidermolytic palmoplantar keratoderma
- Faciogenital (Aarskog) dysplasia
- Facioscapulohumeral muscular dystrophy
- Familial adenomatous polyposis
- Familial hyperlysinemia
- Fanconi anemia
- Femoral hypoplasia-unusual facies syndrome
- Fetal akinesia syndrome
- Fetal alcohol syndrome
- Fibrodysplasia ossificans progressiva
- Finlay-Marks syndrome
- Fragile X syndrome
- Fraser syndrome
- Freeman-Sheldon syndrome
- Frontonasal dysplasia
- Galactosemia
- Gastroschisis
- Gaucher disease
- Generalized arterial calcification of infancy
- Glucose 6-phosphate dehydrogenase deficiency
- Glycogen storage disease, type II
- Goldenhar syndrome
- Hallermann-Streiff syndrome
- Harlequin ichthyosis (harlequin fetus)
- Hemophilia A
- Hereditary hemochromatosis
- Hereditary multiple exostoses
- Holoprosencephaly
- Holt-Oram syndrome
- Hydrops fetalis
- Hyper-IgE syndrome
- Hypochondroplasia
- Hypoglossia-hypodactylia syndrome
- Hypohidrotic ectodermal dysplasia
- Hypomelanosis of Ito
- Hypophosphatasia
- Incontinentia pigmenti
- Infantile myofibromatosis
- Ivemark syndrome
- Jarcho-Levin syndrome
- Kabuki syndrome
- Kasabach-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
- Lowe syndrome
- Marfan syndrome
- McCune-Albright syndrome
- Meckel-Gruber syndrome
- Menkes disease (Kinky-hair syndrome)
- Metachromatic leukodystrophy
- Miller-Dieker syndrome
- Möbius syndrome
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes
- Mucopolysaccharidosis II (Hunter syndrome)
- Mucopolysaccharidosis III (Sanfilippo syndrome)
- Mucopolysaccharidosis IV (Morquio syndrome)
- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
- Multiple epiphyseal dysplasia
- Multiple pterygium syndrome
- Myotonic dystrophy type I
- Netherton syndrome
- Neu-Laxova syndrome
- Neural tube defects
- Neurofibromatosis I
- Noonan syndrome
- Oblique facial cleft syndrome
- Oligohydramnios sequence
- Omphalocele
- Osteogenesis imperfecta
- Osteopetrosis
- Pachyonychia congenita
- Pallister-Killian syndrome
- Phenylketonuria (PKU)
- Pierre Robin sequence
- Polycystic kidney disease, autosomal dominant type
- Polycystic kidney disease, autosomal recessive type
- Prader-Willi syndrome
- Progeria
- Prune belly syndrome
- Pseudoachondroplasia
- R(18) syndrome
- Retinoid embyopathy
- Rett syndrome
- Rickets
- Roberts syndrome
- Robinow syndrome
- Rubinstein-Taybi syndrome
- Schizencephaly
- Schmid metaphyseal chondrodysplasia
- Seckel syndrome
- Severe combined immune deficiency
- Short rib polydactyly sydromes
- Sickle cell disease
- Silver-Russell syndrome
- Sirenomelia
- Smith-Lemli-Opitz 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 syndrome
- Treacher-Collins syndrome
- Trimethylaminuria
- Triploidy
- Trismus pseudocamptodactyly syndrome
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- Tuberous sclerosis
- Turner syndrome
- Twin-twin transfusion syndrome
- Ulnar-mammary syndrome
- VATER (VACTERL) Association
- Von Hippel-Lindau disease
- Waardenburg syndrome
- Williams syndrome
- Wolf-Hirschhorn syndrome
- X-linked ichthyosis
- XXX syndrome
- XXXXX syndrome
- XXXXY syndrome
- XY female
- XYY syndrome