Development Flashcards
What is silver russell syndrome
Affects chromosome 7 and 11
Prenatal and postnatal growth retardation
Characteristic facial appearance: small triangular face
Small incurved fifth fingers
What is Beckwith-Wiedemann syndrome
Dysregulation of imprinting control regions on chromosome 11 Overgrowth Cancer predisposition Macrosomia Macroglossia Acelerated bone age Enlargement of kidneys Increased incidence in IVF conceptions
What is ectrodactyly ecteroderam dysplasia
P63 - problem with formaiton of ectodermal dependent layers
What is Grieg syndrome
GLI3 - physical abnormalities affecting fingers and toes
What is Apert syndrome
FGFR2 - preamture fusion of certain bones
What are the signs for Down’s
Flat nasal bridge, up slanting palpebrral fissure, epicanthic folds, protruding tongue, single palmer crease
What are the signs of Edward
Micrognathia, prominet occiput, clenched overlapping fingers, prominent heel and rocker bottom feet
What are the signs of Patau
Cleft lip, holoprocencephaly, postaxial polydactyly
What is Williams Syndrome
Del17q11
Mild-moderate developmental disorder
heart and blood vessel problems
What is Noonan syndrome
Autosomal dominant - caused by mutations in the RAS/mitogen-activated protein kinase (MAPK) pathway
Short stature
Wide neck
Heart defect
What are examples of X linked recessive
1 in 2 risk for male
Haemophilia
Duchenne musuclar dystrophy
What is the risk for abnormality with nuchal translucency thickness over 5.5mm
80%
What is alpha foeto protein used for
Severity of neural tube defect
AFP reaches maternal serum across placenta
Levels change with gestation (lwoer in 2nd than 1st trimester)
What are the US signs of spina bifida
Lemon sign, banana sign
Difficult to visualise until 16-22 weeks
Describe amniocentesis
16 weeks gestation
10-20 mls of amntioic fluid transabdo udner USS
Cells from amnion, foetal skin, urinary tract
Cultured for 2 weeks
0.5% miscarriage
Describe chorionic villus sampling
After 11 weeks. chromosome analysis within 24 hours. 1-2 risk miscarriage
What are the two major processes of brain development
Process of addition: myelination and dendritic aborisation
Process of regression: elinmination of redudant elements
What are the four domains of child development
Gross motor
Fine motor and vision
Hearing and language
Social and emotional