Chapter

Clinical approach

Helen V. Firth, Jane A. Hurst and Judith G. Hall

in Oxford Desk Reference - Clinical Genetics

Published on behalf of Oxford University Press

ISBN: 9780192628961
Published online October 2011 | e-ISBN: 9780191725715 | DOI: http://dx.doi.org/10.1093/med/9780192628961.003.0034

Series: Oxford Desk Reference

Clinical approach

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Ambiguous genitalia (including sex reversal) - Anal anomalies (atresia, stenosis) - Anterior segment eye malformations - Arthrogryposis (arthrogryposis multiplex congenita) - Ataxic adult - Ataxic child - Brachydactyly - Broad thumbs - Cardiomyopathy in children under 10 years - Cataract - Cerebellar anomalies - Cerebral palsy - Chondrodysplasia punctata - Cleft lip and palate - Coarse facial features - Coloboma - Congenital heart disease - Corneal clouding - Severe deafness in early childhood - Developmental delay in the child with consanguineous parents - Developmental regression - Duane retraction syndrome - Dysmorphic child - Dystonia - Ear anomalies - Facial asymmetry - Failure to thrive (prenatal and postnatal growth failure) - Floppy infant - Fractures - Generalized disorders of skin pigmentation (including albinism) - Hemihypertrophy and limb asymmetry - Holoprosencephaly (HPE) - Hydrocephalus - Hypermobile joints - Hypoglycaemia in the neonate and infant - Hypospadias - Increased bone density - Large fontanelle - Laterality disorders including heterotaxy and isomerism - Leukodystrophy/leukoencephalopathy - Limb reduction defects - Lissencephaly and neuronal migration disorders - Lumps and bumps - Macrocephaly - Mental retardation with apparent X-linked inheritance - Mental retardation - Microcephaly - Micrognathia and Robin sequence - Microphthalmia and anophthalmia - Minor congenital anomalies - Nasal anomalies - Neonatal encephalopathy and intractable seizures in the neonate - Nystagmus - Obesity with and without developmental delay - Ocular hypertelorism - Oedema—generalized or puffy extremities - Oesophageal and intestinal atresia (including tracheo-oesophageal fistula) - Optic nerve hypoplasia - Overgrowth - Patchy hypomelanotic skin lesions - Patchy pigmented skin lesions (including café-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 defects and thumb hypoplasia - Retinal dysplasia - Retinal receptor dystrophies - Scalp defects - Seizures with developmental delay/mental retardation - Short stature - Skeletal dysplasia - Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia, and arachnoid cysts) - Suspected non-accidental injury - Syndactyly (other than 2, 3 toe syndactyly) - Unusual hair, teeth, nails, and skin

Chapter.  128181 words.  Illustrated.

Subjects: Clinical Genetics

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