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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

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2
Q

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

A

folic acid

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3
Q

List two types of neural tube defect

A

anencephaly
encephalocele
microcephaly
spina bifida

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4
Q

Which neural tube defect is fatal?

A

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

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5
Q

Two symptoms of microcephaly?

A

shallow sloping head
developmental delay
seizures
short stature

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6
Q

Two causes of microcephaly?

A

genetic
maternal substance abuse
perinatal hypoxia
TORCH infections

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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

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8
Q

What is the cause of cleft lip and palate?

A

failure of fusion of maxillary processes

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9
Q

What is the incidence of cleft lip?

A

1/1000

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10
Q

At what period is the cleft lip repaired?

A

3 months

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11
Q

At what age is the palate repaired?

A

6-12 months

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12
Q

Why is it important to repair cleft lip and palate?

A

speech problems
psychological issues
aspiration pneumonia risk

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13
Q

Is a preauricular pit concerning?

A

weak association with renal abnormalities

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14
Q

Is a preauricular tag worrying?

A

not at all, perhaps cosmetically

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15
Q

How is tracheo-oesophageal fistula diagnosed?

A

bronchoscopy and contrast studies of oesophagus

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16
Q

What is the presentation of tracheo-oesophageal fistula?

A

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

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17
Q

Which condition is associated with duodenal atresia

A

down’s syndrome (1/3)

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18
Q

Which is a sign of duodenal atresia on AXR?

A

double-bubble

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19
Q

What is the most common presentation of duodenal atresia?

A

bilious vomiting shortly after birth

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20
Q

What is the prognosis of biliary atresia?

A

excellent with surgical management

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21
Q

What is exomphalos?

A

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

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22
Q

Name one associated condition with exomphalos

A

trisomy 13, 18, and cardiac defects

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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

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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.

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25
Q

What is hypospadias?

A

urethral opening on underside of penis

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26
Q

Is circumcision advised in hypospadias?

A

no as foreskin is used in the repair

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27
Q

When is surgery for hypospadias performed?

A

12-18 months

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28
Q

On which side does diaphragmatic hernia most commonly present?

A

90% on left side

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29
Q

Two presentations of diaphragmatic hernia?

A

dextrocardia, respiratory distress at birth, scaphoid abdomen?

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30
Q

What is achondroplasia?

A

bone growth disorder that is the most common type of dwarfism

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31
Q

What is the mode of inheritance of achondroplasia?

A

AD, mostly associated with spontaneous mutations

32
Q

Two features of achondroplasia at birth?

A

short limbs, large heard flat midface, lumbar lordosis, trident hand

33
Q

What is syndactyly and polydactyly?

A 
synd= webbed fingers or toes
polydact= >5 fingers or toes
34
Q

What is the screening for down’s in the first trimester?

A

beta hCG, PAPP-A, age= calculation for risk

35
Q

Which imaging can help to determine risk of down’s?

A

a raised foetal nuchal transluscency

36
Q

Which investigations are offered to high risk mothers?

A

amniocentesis and chorionic villus sampling

37
Q

What is the risk associated with amniocentesis and CVS?

A 
amniocentesis= 1% risk of miscarriage
CVS= 1.5% risk
38
Q

List three facial features of down’s syndrome

A
  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
Q

Which is the most commonly associated condition with down’s syndrome?

A

congenital heart disease (50%)

40
Q

Which is the most common congenital heart defect in down’s syndrome children?

A

atrioventricular septal defect

41
Q

Name two GI defects in down’s syndrome

A
  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
Q

List two findings that you might see on physical exam on down’s syndrome patient

A
  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
Q

List two neurological complications of down’s syndrome?

A
  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
Q

Aside from neuro, GI, cardiac, list two complications of down’s syndrome, e.g. hypothyroidism

A
  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
Q

Define atresia

A

Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.

46
Q

What is the incidence of down’s syndrome?

A

1/1000

47
Q

Name two mechanisms that result in down’s syndrome

A

non-disjunction (90%)
translocation
mosaicism

48
Q

Which trisomy is Edward’s syndrome?

A

trisomy 18

49
Q

Name two features of Edward’s syndrome

A
  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
Q

What is the prognosis of edward’s syndrome?

A

most babies do not live beyond 1 year

51
Q

Which trisomy is Patau’s syndrome?

A

trisomy 13

52
Q

Name two features of patau’s syndrome

A
  1. Holoprosencephaly
  2. Structural eye defects
  3. Polydactyly
  4. Cutis aplasia (skin defects)
  5. Cardiac and renal defects
53
Q

What is the prognosis of patau’s syndrome?

A

90% die in first year of life

54
Q

Name two features of Turner

A
  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
Q

What is the chromosomal abnormality in Turner’s syndrome?

A

45XO

56
Q

Two features of Klinefelter’s syndrome?

A
  1. Infertility
  2. Hypogonadism, microorchidism.
  3. Gynaecomastia
  4. Tall stature
  5. Intelligence from normal to moderate learning difficulties.
57
Q

2 features of fragile X syndrome?

A
  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
Q

What is the chromosomal abnormality in Klinefelter’s syndrome?

A

XXY

59
Q

Name three infections that cause congenital defects secondary to intrauterine infection

A

TORCH (Toxoplasmosis, Other (syphilis) Rubella, Cytomegalovirus, Herpes simplex
virus)

60
Q

Define congenital

A

(of a disease or physical abnormality) present from birth.

61
Q

List two features of congenital cytomegalovirus infection

A
  1. Low birth weight, microcephaly, cerebral calcification.
  2. Hepatosplenomegaly with jaundice
  3. Petechiae
62
Q

What is the treatment for cytomegalovirus infection?

A

gancyclovir

63
Q

List two complications of CMV infection

A

At risk for hearing loss, mental retardation, psychomotor delay, cerebral palsy, and
impaired vision

64
Q

List two features of congenital rubella syndrome

A
  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
Q

List two features of congenital toxoplasmosis

A
  1. Hydrocephalus/ or microcephaly
  2. Chorioretinitis
  3. Cerebral calcification
  4. Cerebral palsy
  5. Epilepsy
66
Q

List three features of foetal alcohol syndrome

A
  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
Q

List three teratogenic drugs

A 
Phenytoin
Sodium valproate
Lithium
Warfarin
Tetracycline
68
Q

What is the teratogenic effect of phenytoin?

A

Cleft lip/palate, cardiac defects, hypoplastic nails and craniofacial
abnormalities (called Foetal hydantoin syndrome)

69
Q

What is the teratogenic effect of sodium valproate/carbamazepine?

A

neural tube defects

70
Q

What is the teratogenic effect of lithium?

A

Ebstein’s anomaly

71
Q

What is the teratogenic effect of warfarin?

A

frontal bossing, cardiac defects, microcephaly, nasal hypoplasia and
epiphyseal stippling.

72
Q

What is the teratogenic effect of tetracyline?

A

discoloration of teeth

73
Q

What is Ebstein’s anomaly?

A

In this condition, your tricuspid valve is in the wrong position and the valve’s flaps (leaflets) are malformed. Variability in severity

74
Q

Name two physical features of prader wilii syndrome

A

almond shaped eyes, pale skin and light hair, small hands

and feet with hypogonadism

75
Q

List two features of prader willi syndrome

A
  1. At birth - hypotonia, feeding problems, hypogonadism
  2. Later failure to thrive, scoliosis
  3. Hyperphagia and obesity
  4. Developmental delay and learning difficulties
76
Q

Which chromosome is abnormal in Prader Willi Syndrome?

A

15

77
Q

Name three maternal conditions/factors that can influence foetal development

A

diabetes, hyperthyroidism, alcohol, opiates & smoking

1 Paediatrics (19 decks)

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