Faltering Growth Flashcards
Clinical features of Down’s syndrome
• Trisomy 21, mosaic presentations
• Incidence increases with maternal age, often antenatal diagnosis
• Clinical features
• Flat occiput, single palmar crease, sandal gap, epicanthic folds,
hypotonia, flat nasal bridge, prominent tongue, low set ears • Tests
• Real-time PCR or FISH, inform parents
Down’s syndrome Associated problems
- Hirschsprung disease
- Duodenal atresia
- Congenital heart disease
- Learning difficulties
- Short stature
- Hearing difficulties
- Visual impairment
- Sleep apnoea
- Hypothyroidism
- Increased risk of leukaemia
- Early onset Alzheimer’s disease
Monitoring for children with Down’s syndrome
- Special growth charts
- Annual screening review with bloods
- Social issues
- Vulnerable individuals
Turner’s syndrome clinical features
- XO syndrome (45 chromosomes, only one X chromosome)
- Clinical features
- Lymphoedema of neck, feet and/or hands • Short stature
- Delayed puberty, infertility
Treatment of Turner’s syndrome
- Growth hormone
* Oestrogen replacement
Klinefelter ’s clinical features
- 47, XXY
- Clinical features • Infertility
- Tall stature
- Hypogonadism
Fragile X syndrome clinical features
• X-linked disorder Fragile X syndrome • Female carriers may have learning difficulties • Clinical features • Moderate-severe learning difficulties • Autism • Macrocephaly • Macroorchidism • Long face, large everted ears, prominent mandible and broad forehead
genetic basis for Mitochondrial inheritance disorders
- Only maternal transmission
- Features cause variety of disease phenotypes
- High energy tissues e.g. muscle, brain, heart and retina commonly affected
- Severity of condition variable
Prader-Willi syndrome clinical features
- Imprinting
- Absence of paternal copy of 15q region
- Uniparental disomy
- Child inherits 2 copies of chr 15q11-13 from mother, none from father
- Features
- Hypotonia
- Feeding difficulties in neonates, polyphagia in later childhood • Learning difficulties
Angelman syndrome clinical features
- Imprinting
- Absence of maternal copy of 15q11-13
- Uniparental disomy
- Child inherits 2 copies from father, none from mother
- Features
- Happy demeanor
- Development delay with learning difficulties • Movement disorder
Di-George syndrome clinical features
- 22q11.2 deletion syndrome – velocardiofacial defect
- Features
- Congenital heart disease
- Cleft palate
- Learning difficulties
- Thymic aplasia
- Frequent infections due to impaired T-cell mediated immunity
- Hypoparathyroidism
- May present with hypocalcemia
“CATCH-22”
Williams syndrome clinical features
- Chromosome 7 microdeletion
- Features
- Widely spaced mouth, long philtrum, flat nasal bridge • Cocktail party type personality
- Hypotonia, faltering growth
- Congenital heart disease
- Mild-moderate learning difficulties
What are the 4 phases of growth in childhood?
- Fetal growth - fastest
- 30% of eventual growth
- Size determined by size of mother and by placental nutrition
- Infantile phase (upto 18 months)
- depends on adequate nutrition
- Good health and normal thyroid function
- Rapid but decelerating growth (15% of eventual growth) • Changed from fetal length to genetic height*
- Childhood phase
- Slow but prolonged growth (40% of final height)
- Pituitary growth hormone, nutrition, good health and happiness
- Pubertal growth spurt
- Sex hormones (15% of final height)
What is the Growth chart (WHO new Global child growth standards) based on?
- Based on totally breast fed (upto 6 months) infants
- Bands on a growth chart is 2/3 of a standard deviation
- Further away from the mean morel likely to be pathological
- Serial measurements show the pattern of growth
How do you measure the growth of a child at different ages?
- Must be measured and plotted accurately • Weight
- Naked infant / child dressed in underclothing • Height under 2 years
- Lying horizontally on a measuring board
- Standing height over 2 years
- Head circumference (occipitofrontal) • Maximum of 3 measurements
