genetics Flashcards
features of trisomy 18 (edwards syndrome)
micrognathia (small lower jaw)
low set ears
rocker bottom feet
overlapping fingers
micrognathia (small lower jaw)
low set ears
rocker bottom feet
overlapping fingers
Edwards syndrome Trisomy 18
E for Eighteen
Edward rock n roll
Rocker bottom
Clenched fist (around microphone)
Small head (hast let fame go to head)
hypotonia
hypogonadism
obesity
is a feature of?
prader-willi syndrome
microcephalic (small head)
small eyes
cleft lip/palate
scalp lesions
polydactyly
Patau syndrome
trisomy 13
most common cardiac pathology associated with duchennes muscular atrophy?
dilated cardiomyopathy
begins in adolescence and is rapidly progressive
Duchenne muscular dystrophy only affects boy
a. true
b. false
a. true
X linked - recessive
Signs of Duchennes muscular atrophy
progressive proximal muscle weakness from 5 years old
calf pseudohypertrophy
gowers sign - child uses arms to stand up from a squatted position
30% of patients will have intellectual impairment
which blood test will be raised in duchennes muscular dystrophy
CK - raised creatine kinase
colicky pain and a sausage shaped mass in abdomen
intussusception
treatment of intussuception
- air enema /insufflation - use rectal air under radiological guidance!! AIR INSUFFLATION
(2nd line would be barium enema)
if fails or peritonitits -> surgery
invesitgation for intussuception
Ultrasound scan!!!
- target like mass (doughnut)
what are febrile convulsions
seizures that are provoked by fever in otherwise normal children
occur between 6 months and 5 years
when do febrile convulsions occur
early in viral infections as the temperature rises rapidly
brief < 5 mins
mostly tonic-clonic
when should parents phone the ambulance in febrile convulsions
lasting > 5 minutes
when should a child start to smile
6 weeks
when do babies start social smiling
6 weeks
mile stones for gross motor skills
heads, shoulders, knees and toes
3- control of head
6- sitting up
9 - crawling
12 - walking
mile stones for gross motor skills
heads, shoulders, knees and toes
3- control of head
6- sitting up
9 - crawling
12 - walking
social smiling
6 weeks
when should baby be laughing and enjoying friendly handling
3 months
social smiling
6 weeks
what sign in bronchiolitis would necessitate hospital
grunting
