Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

1 Paediatrics > Congenital abnormalities > Flashcards

Congenital abnormalities Flashcards

1
Q

What is neural tube defect?

A

Impaired closure of the neural plate, at 3 weeks post conception, resulting in disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which supplement should mothers take to avoid neural tube defects in child?

A

folic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

List two types of neural tube defect

A

anencephaly
encephalocele
microcephaly
spina bifida

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Which neural tube defect is fatal?

A

anencephaly= scalp, skull, and cerebral hemispheres do not develop

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Two symptoms of microcephaly?

A

shallow sloping head
developmental delay
seizures
short stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Two causes of microcephaly?

A

genetic
maternal substance abuse
perinatal hypoxia
TORCH infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are TORCH infections?

A

(T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the cause of cleft lip and palate?

A

failure of fusion of maxillary processes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the incidence of cleft lip?

A

1/1000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

At what period is the cleft lip repaired?

A

3 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

At what age is the palate repaired?

A

6-12 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Why is it important to repair cleft lip and palate?

A

speech problems
psychological issues
aspiration pneumonia risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Is a preauricular pit concerning?

A

weak association with renal abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Is a preauricular tag worrying?

A

not at all, perhaps cosmetically

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How is tracheo-oesophageal fistula diagnosed?

A

bronchoscopy and contrast studies of oesophagus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the presentation of tracheo-oesophageal fistula?

A

coughing, choking during feeding, abdominal distension, recurrent chest infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Which condition is associated with duodenal atresia

A

down’s syndrome (1/3)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Which is a sign of duodenal atresia on AXR?

A

double-bubble

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the most common presentation of duodenal atresia?

A

bilious vomiting shortly after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the prognosis of biliary atresia?

A

excellent with surgical management

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is exomphalos?

A

hernia to the base of the umbilical cord covered by a sac

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Name one associated condition with exomphalos

A

trisomy 13, 18, and cardiac defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Can exomphalos be surgically repaired in one go?

A

may need to be done in stages, as the abdomen is often too small
to hold the bowel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is gastroschisis?

A

Defect in abdomen to the right of the umbilicus with protrusion of abdominal
contents not covered by a sac. The bowel is often in poor condition and may need to
be resected as part of the surgical repair. In contrast to exomphalos which has sac covering bowel.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is hypospadias?
urethral opening on underside of penis
26
Is circumcision advised in hypospadias?
no as foreskin is used in the repair
27
When is surgery for hypospadias performed?
12-18 months
28
On which side does diaphragmatic hernia most commonly present?
90% on left side
29
Two presentations of diaphragmatic hernia?
dextrocardia, respiratory distress at birth, scaphoid abdomen?
30
What is achondroplasia?
bone growth disorder that is the most common type of dwarfism
31
What is the mode of inheritance of achondroplasia?
AD, mostly associated with spontaneous mutations
32
Two features of achondroplasia at birth?
short limbs, large heard flat midface, lumbar lordosis, trident hand
33
What is syndactyly and polydactyly?
``` synd= webbed fingers or toes polydact= >5 fingers or toes ```
34
What is the screening for down's in the first trimester?
beta hCG, PAPP-A, age= calculation for risk
35
Which imaging can help to determine risk of down's?
a raised foetal nuchal transluscency
36
Which investigations are offered to high risk mothers?
amniocentesis and chorionic villus sampling
37
What is the risk associated with amniocentesis and CVS?
``` amniocentesis= 1% risk of miscarriage CVS= 1.5% risk ```
38
List three facial features of down's syndrome
1. Prominent epicanthic folds 2. Upward slanting palpebral fissures 3. Brushfield spots on iris (white spots) 4. Protruding tongue, with small mouth 5. Small chin, flat nose, round face and small low set ears
39
Which is the most commonly associated condition with down's syndrome?
congenital heart disease (50%)
40
Which is the most common congenital heart defect in down's syndrome children?
atrioventricular septal defect
41
Name two GI defects in down's syndrome
1. Increased risk of Hirschprung’s disease. 2. Increased risk of duodenal atresia and imperforate anus. 3. High incidence of umbilical hernia 4. High incidence of gastro oesophageal reflux 5. Coeliac disease common
42
List two findings that you might see on physical exam on down's syndrome patient
1. Generalised Hypotonia 2. Short neck with excess skin at nape 3. Brachycephaly 4. Single palmar crease, short hands and fingers and a sandal toe gap in feet 5. Poor growth and short stature.
43
List two neurological complications of down's syndrome?
1. Learning Difficulties 2. Hearing impairment (recurrent otitis media) 3. Strabismus, cataract (require regular vision and hearing checks) 4. Increased incidence of epilepsy 5. Atlanto-axial instability – affects 10-20%, may cause spinal cord compression
44
Aside from neuro, GI, cardiac, list two complications of down's syndrome, e.g. hypothyroidism
1. Significantly raised incidence of haematological malignancy i.e. AML and ALL. 2. Hypothyroidism – annual TFTs 3. Recurrent respiratory infection 4. Obstructive sleep apnoea 5. Alzheimer’s disease
45
Define atresia
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
46
What is the incidence of down's syndrome?
1/1000
47
Name two mechanisms that result in down's syndrome
non-disjunction (90%) translocation mosaicism
48
Which trisomy is Edward's syndrome?
trisomy 18
49
Name two features of Edward's syndrome
1. Microcephaly, small chin 2. Low set ears 3. Overlapping fingers (thumb across palm, index over middle, little over ring) 4. Rocker bottom feet 5. Cardiac: VSD, ASD PDA.
50
What is the prognosis of edward's syndrome?
most babies do not live beyond 1 year
51
Which trisomy is Patau's syndrome?
trisomy 13
52
Name two features of patau's syndrome
1. Holoprosencephaly 2. Structural eye defects 3. Polydactyly 4. Cutis aplasia (skin defects) 5. Cardiac and renal defects
53
What is the prognosis of patau's syndrome?
90% die in first year of life
54
Name two features of Turner
1. Downward-turned mouth, downward slanting palpebral fissures 2. Webbed neck, wide spaced nipples, lymphodema. 3. Coarctation of aorta 4. Streak gonads, lack of secondary sexual development 5. Short stature
55
What is the chromosomal abnormality in Turner's syndrome?
45XO
56
Two features of Klinefelter's syndrome?
1. Infertility 2. Hypogonadism, microorchidism. 3. Gynaecomastia 4. Tall stature 5. Intelligence from normal to moderate learning difficulties.
57
2 features of fragile X syndrome?
1. Long face, prominent ears, large chin. 2. Learning difficulty. 3. Macroorchidism 4. Connective tissue problems such as flat feet, hyperflexible joints 5. Behavioural characteristics, autistic behaviours, hand flapping, ADD.
58
What is the chromosomal abnormality in Klinefelter's syndrome?
XXY
59
Name three infections that cause congenital defects secondary to intrauterine infection
TORCH (Toxoplasmosis, Other (syphilis) Rubella, Cytomegalovirus, Herpes simplex virus)
60
Define congenital
(of a disease or physical abnormality) present from birth.
61
List two features of congenital cytomegalovirus infection
1. Low birth weight, microcephaly, cerebral calcification. 2. Hepatosplenomegaly with jaundice 3. Petechiae
62
What is the treatment for cytomegalovirus infection?
gancyclovir
63
List two complications of CMV infection
At risk for hearing loss, mental retardation, psychomotor delay, cerebral palsy, and impaired vision
64
List two features of congenital rubella syndrome
1. Cataracts, microphthalmos 2. Sensorineural hearing loss 3. Thrombocytopenic purpura “Blueberry muffin rash” 4. Cardiac: pulmonary artery stenosis or patent ductus arteriosus. 5. Hepatomegaly
65
List two features of congenital toxoplasmosis
1. Hydrocephalus/ or microcephaly 2. Chorioretinitis 3. Cerebral calcification 4. Cerebral palsy 5. Epilepsy
66
List three features of foetal alcohol syndrome
1. Microcephaly 2. Facial features: epicanthic folds, low nasal bridge, absent philtrum, thin upper lip, and small chin 3. Cardiac defects, VSD, ASD 4. Growth retardation, limb abnormalities 5. Learning difficulties and behavioural problems
67
List three teratogenic drugs
``` Phenytoin Sodium valproate Lithium Warfarin Tetracycline ```
68
What is the teratogenic effect of phenytoin?
Cleft lip/palate, cardiac defects, hypoplastic nails and craniofacial abnormalities (called Foetal hydantoin syndrome)
69
What is the teratogenic effect of sodium valproate/carbamazepine?
neural tube defects
70
What is the teratogenic effect of lithium?
Ebstein’s anomaly
71
What is the teratogenic effect of warfarin?
frontal bossing, cardiac defects, microcephaly, nasal hypoplasia and epiphyseal stippling.
72
What is the teratogenic effect of tetracyline?
discoloration of teeth
73
What is Ebstein's anomaly?
In this condition, your tricuspid valve is in the wrong position and the valve's flaps (leaflets) are malformed. Variability in severity
74
Name two physical features of prader wilii syndrome
almond shaped eyes, pale skin and light hair, small hands | and feet with hypogonadism
75
List two features of prader willi syndrome
1. At birth - hypotonia, feeding problems, hypogonadism 2. Later failure to thrive, scoliosis 3. Hyperphagia and obesity 4. Developmental delay and learning difficulties
76
Which chromosome is abnormal in Prader Willi Syndrome?
15
77
Name three maternal conditions/factors that can influence foetal development
diabetes, hyperthyroidism, alcohol, opiates & smoking

1 Paediatrics (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions