Flashcards in Unusual appearance Deck (10):
Major features of Down's Syndrome
Commonest genetic anomaly
Significant learning disability with implications for long term independent living.
Facial features of upward sloping palpebral fissures, fold of skin over epicanthic of the eyes, protruding tongue, flat occipital,
single palmar creases, mild to moderate developmental delay.
Associated medical - GI problems eg duodenal atresia, cardiac anomalies eg atrioventricular canal defects), Otitis media, squint, Hypothroidism, Atlanta-axial vertebral instability and leukaemia
A syndrome is a consistent pattern of Dysmorphic features occurring together (often genetic in origin but sometimes environmentally induced due to teratogens eg foetal alcohol syndrome or intrauterine infections eg rubella syndrome). The abnormalities in most syndromes are secondary to insults sustained in early embryonic life - They are known as malformation
A sequence is where one abnormality leads to another (eg the small mandible in the Pierre Robin sequence causes posterior displacement of the tongue, which prevents the palate forming correctly, leading to cleft palate). The abnormalities in sequences are often due to external restrictions to intrauterine growth and are known as deformations.
Cleft lip and palate
Heart defects - VSD, PDA, ASD
Heart defect - VSD, PDA, ASD
Lymph oedematous hands and feet
Shield shaped chest
Wide spaced nipples
Wide carrying angle
Tx with GH and Oestrogen therapy to initiate puberty and maintain it.
Phenotypically similar to Turner's but occur in both sexes
Limb absent eg radii
Retarded growth and development
Genital hypoplasia and ear anomalies.