Atlas of Genetic Diagnosis and Counseling 2/e

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.

Table of Contents
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) association

Von 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