Genetics Flashcards
Foetal Alcohol Syndrome characteristics
- growth restriction
- face: saddle-shaped nose, maxillary hypoplasia, absent philtrum between nose and upper lip, short thin upper lip
- developmental delay
- cardiac defects
Physical features of Down’s Syndrome
- epicanthal folds
- flat nasal bridge
- upward slanting eyes
- protruding tongue
- small and low set ears
- shortened extremities
- clinodactyly
- single transverse palmar crease
- sandal gap
- short neck
- dry skin
- hypotonia
Medical problems with Down’s Syndrome (commonest)
Cardiac defects
GI (duodenal atresia, hirschsprung’s)
Ophthal - congenital cataract, refractive errors, squint
MSK - hypotonia, congenital dislocation
Endocrine - congenital hypothyroidism
Development - delayed, ASD, ADHD, intellectual
Neuro - seizure, Atlantoaxial instability
Hearing loss - sensorineural deafness
Haemato - leukemia
Short stature - due to malabsorption, hypothyroid, heart dx
Puberty - Girls slightly delayed menarche, boys infertile
Respi - OSA
Psych - depression
Tests for Down’s
Echo by 2 weeks/6 weeks if indicated
normal TFTS at birth, 5 years, then 2 yearly
Growth monitoring
Regular ophthal exam 2 yearly
Regular Hearing check annually
ENT annually
OSA annually
Assess diabetes symptoms at each visit
Assess for GERD at each visit
Assess for blood disorders at each visit
Celiac dx if other autoimmune disorders present
Management for Down‘a
Medical; treat problem
Psychological - support group
Social - early intervention program
How to manage hydrocephalus
Insert VP shunt to relieve ICP symptoms and minimize risk of neuro damage
- can malfunction if blocked or infected so need to replace
- if overdrain (low pressure headache) insert regulatory valve
Clinical features of hydrocephalus
Head circumference very large and excessive growth
Skull sutures separate, anterior fontanelle bulges, scalp vein distends
Sun setting of eyes and fixed downward gaze is a late sign
Signs and symptoms of raised ICP in older kids
