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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