Oxford Desk Reference Clinical Genetics

by Firth, Helen V.; Hurst, Jane A.; Hall, Judith G.

• ISBN13: 9780192628961
• ISBN10: 0192628968
• Format: Paperback
• Copyright: 2005-09-01
• Publisher: Oxford University Press

Summary

This important new book provides a useful, easy-to-use guide to the clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out-patient and ward-based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are covered. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well-illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. This accessible book is designed for use by consultants and trainees in clinical genetics, genetic counsellors and paediatricians, particularly those working in paediatric neurology, neonatology or child development.

Table of Contents

Introduction

Adoption

Approach to the consultation with a child with dysmorphism, congential malformation, or developmental delay

Autosomal dominant (AD) inheritance

Autosomal recessive (AR) inheritance

Communication skills

Confidentiality

Confirmation of diagnosis

Consent for genetic testing

The genetic code and mutations

Genomic imprinting

Mitochondrial inheritance

Multifactorial inheritance

Reproductive options

Testing for genetic status

Useful resources

X-linked dominant (XLD) inheritance

X-linked recessive (XLR) inheritance

Clinical Approach

Ambiguous genitalia (including sex reversal)

Anal anomalies (atresia, stenosis and anterior placement)

Anterior segment eye malformations

Arthrogryposis

Ataxic adult

Ataxic child

Brachydactyly

Broad thumbs

Cardiomyopathy in children under 10 yrs

Cataract

Cerebellar anomalies

Cerebral palsy

Chondrodysplasia punctata

Cleft lip and palate

Coarse facial features

Coloboma

Congenital heart disease

Corneal clouding

Deafness

Developmental delay in the child with consanguineous parents

Developmental regression

Duane retraction syndrome

Dysmorphic child

Dystonia

Ear anomalies

Facial asymmetry

Failure to thrive

Floppy infant

Fractures

Generalised disorders of pigmentation (including albinism)

Hemihyperplasia and limb asymmetry

Holoprosencephaly

Hydrocephalus

Hypermobile joints

Hypoglycaemia in infancy

Hypospadias

Increased bone density

Large fontanelle

Laterality disorders including heterotaxy and isomerism

Leukodystrophy

Limb reduction defect

Lissencephaly and neuronal migration disorders

Lumps and bumps

Macrocephaly

Mental retardation with apparent X-linked inheritance

Mental retardation

Microcephly

Micrognathia and Robin sequence

Microphthalmia and anophthalmia

Minor congenital anomalies

Nasal anomalies

Neonatal encephalopathy and intractable seizures

Nystagmus

Obesity with and without developmental delay

Ocular hypertelorism

Oedema - generalised or puffy extremities

Oesophageal and intestinal atresia (including tracheo-oesophageal fistula)Optic nerve hypoplasia

Overgrowth

Patchy hypomelanotic skin lesions

Patchy pigmented skin lesions (including cafe au lait spots)

Plagiocephaly and abnormalities of skull shape

Postaxial polydactyly

Preaxial polydactyly

Prolonged neonatal jaundice and jaundice in infants below 6 months

Ptosis blepharophimosis and other eyelid anomalies

Radial ray and thumb hypoplasia

Retinal dysplasia

Retinal receptor dystrophies

Scalp defects

Seizures with developmental delay

Short stature

Skeletal dysplasia

Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia and arachnoid cysts)

Suspected non-accidental injury

Syndactyly

Unusual hair, teeth and nails

Common consultations

Achondroplasia

Autosomal dominant polycystic kidney disease (ADPKD)

Adrenoleukodystrophy (X-linked)

Alpha 1- antitrypsin deficiency

Alport syndrome

Androgen insensitivity syndrome (AIS)

Angelman syndrome

Autism and autistic spectrum disorders

Beckwith-Wiedemann syndrome

Congenital adrenal hyperplasia

Consanguinity

Craniosynostosis

Cystic fibrosis

Dementia

Diabetes

Dilated cardiomyopathy (DCM)

DNA repair defects

Duchenne and Becker muscular dystrophy (DMD and BMD)

Ehlers-Danlos syndrome (EDS)

Epilepsy in infants and children

Epilepsy

Facioscapulohumeral muscular dystrophy (FSHD)

Fragile X syndrome

Glaucoma

Haemochromatosis

Haemoglobinopathies

Haemophilia and other inherited coagulation disorders

Hereditary Haemorrhagic Telangiectasia (HHT)

Hereditary motor sensory neuropathy (HMSN)

Hereditary Spastic Paraplegia (HSP)Hirschprung disease

Huntington disease (HD)

Hyperlipidaemia

Hypertrophic cardiomyopathy (HCM)

Immunodeficiency

Incest

Leigh''s encephalopathy

Limb girdle muscular dystrophies

Long QT and Brugada syndromes

Marfan syndrome

Mitochondrial diseases

Myotonic dystrophy

Neural tube defects

Neurofibromatosis type 1 (NF1)

Noonan syndrome

Parkinson disease

Retinitis pigmentosa

Rett syndrome

Sensitivity to anaesthetic agents

Spinal muscular atrophy (SMA)

Stickler syndrome

Thrombophilia

Tuberous sclerosis (TS)

CancerBRCA1 and BRCA2Breast cancer

Cancer surveillance methods

Colorectal canc

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