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Pediatrics > Congenital Abnormalities > Flashcards

Congenital Abnormalities Flashcards

1
Q

At what points in a futus/baby development may a congenital abnormality become apparent?

A

Antenatally (either downs screening on 20 week scan)
Immediately at birth
At routine new born examination
Later in life due to abnormal growth or development

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2
Q

What are the 6 most common congenital abnormalities of the Central Nervous System?

A 
Anencephaly 
Encephalocele
Microcephaly
Disorders of Neuronal migration
Spina Bifida 
Sacral Pit
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3
Q

Describe the definition and features of Anencephaly

A

Lare proportion of scalp, skull and hemispheres not present. Usually detected antenatally. Always fatal. Caused by defect in neural tube closure .
Maternal pre-conception folic acid could prevent about 70% of neural tube defects.

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4
Q

Describe the features of encephalocele

A

neural tube defect where brain and meninges protrude through midline defect in skull. Associated with crania-facial abnormalities

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5
Q

Describe the definition and features of microcephaly

A

Small head due to incomplete brain development or arrest of growth. Present at birth or can’t develop within first few years of life. Occipital-frontal circumference will be in the lower centiles, usually causes developmental delays, seizures and short stature

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6
Q

What are the causes of microcephaly?

A

Usually genetic.
May be TORCH infections
Maternal substance abuse
perinatal hypoxia

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7
Q

Give 3 example of disorders of neuronal migration

A

Holoprosencephaly - forebrain fails to split into 2 hemispheres
Schizencephaly - abnormal clefts of grey matter line the ventricles
porencephaly - cysts or cavities within the cerebral hemispheres

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8
Q

in a neonate what is a sacral pit?

A

A dimple in skin over the sacrum. Usually benign. Harmless if skin at base of dimple or it is below natal cleft. imagine later on if worried

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9
Q

Give 3 common congenital abnormalities of ENT

A

Cleft lip or palate
Preauricular pits
Preauricular tags

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10
Q

Give 3 facts about pre auricular pits

A

A dimple anterioir to tragus
Loose association to renal disease
Only scanned if other abnormalities or FHx of deafness

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11
Q

what are pre auricular skin tags

A

totally benign

some parents worried about cosmetic

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12
Q

Give 5 significant congenital abnormalities of the gastrointestinal system

A 
Tracheo-oesophageal fistula 
Duodenal atresia
Exomphalos/omphalocele
gastroschisis
Imperforate anus
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13
Q

Describe 4 features of hypospadias

A

Urethral opening on ventral aspect of penis
usually near glans but can be anywhere on midline to scrotum
surgical repair done at 12-18 months
Not allowed to be circumcised

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14
Q

what is tracheo-oesophageal fistulas

A

communication between trachea and oesophagus

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15
Q

What congenital conditions is tracheo-oesophageal fistula associated with?

A

oespophageal fistual and many syndromes

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16
Q

How does trachea-oesophageal fistula present?

A

coughing
choking
poor feeding
chest infection

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17
Q

How is an trachea oesphageal fistula repaired?

A

surgically

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18
Q

How common is duodenal atresia?

A

1 in 5000 births

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19
Q

What common congenital condition is duodenal atresia associated with?

A

Downs Syndrome

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20
Q

What is the incidence of cleft lip and palate?

A

1 in 1000 live births

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21
Q

What is the congenital cause of cleft lip and palate?

A

failure of fusion of the maxillary process

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22
Q

How old will a child be when cleft lip is repairred?

A

3 months old

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23
Q

At what age would you repair a cleft palate?

A

6-12 months old

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24
Q

What complications can arise from a cleft lip or palate?

A

poor feeing
Speech problems
aspiration pneumonia

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25
Q

How does duodenal atresia present?

A

Bilious green vomitting at birth

26
Q

What is the classic sign seen on x-ray in duodenal atresia?

A

double bubble sign

27
Q

What is Exomphalos

A

Hernia into the base of the base of the umbilical cord covered by a sac

28
Q

What other malformations in exomphalos associated with?

A

trisomes 13 and 18 and cardiac defects

29
Q

What is the treatment of exomphalos?

A

surgucal repairs. often done in stages are the abdomen is too small

30
Q

What is the other name for exomphalos?

A

omphalocele

31
Q

What is the incidence of gastroschisis?

A

1 in 3000 and is increasing

32
Q

What is gastroschisis?

A

Defect in the abdomen to the right of the umbilical cord, similar to exomphalos but without a sac coveriing - meaning that there may need to be resection of the bowel on repair

33
Q

What is the incidence of an imperforate anus?

A

1 in 5000 live births

34
Q

What is the presentation of imperforate anus?

A

found on neonatal check, billions vomitting, abdominal distention

35
Q

Where are diaphragmatic hernias most likely to occur?

A

90% are on the left side

36
Q

What is a scaphoid abdomen and what neonatal condition are you most likely to find it in?

A

When there is a sunken concave appearance to abdomen most commonly found in diaphragmatic hernia

37
Q

How will diaphragmatic hernia present?

A

at birth where neonate has spaced abdomen, apparent dexacardia and respiratory distress

38
Q

Name 3 commonly seen congenital abnormalities of the musculoskeletal system

A

Achondroplasia
Polydactyly
Syndactyly

39
Q

What is Achondroplasia?

A

a disorder of bone growth which causes the most common type of dwarfism

40
Q

What are the genetic features of achondroplasia?

A

an autosomal dominant condition which is caused by mutation to Ch 4p16

41
Q

What are the physical features of achondroplasia?

A 
short limbs
large head
flat mid face
frontal bossing
lumbar lordosis
trident hand
42
Q

in achrondroplasia what is ‘trident hand’

A

persistent space between middle and ring fingers

43
Q

What is polydactyly

A

More than 5 fingers or toes on any limb

44
Q

How is polydactyly treated?

A

refer to plastic surgeons for reapir

45
Q

What is syndactyly?

A

Webbed fingers or toes

46
Q

What is Trisomy 18?

A

Edwards syndrome

47
Q

Give 5 features of Edwards syndrome

A 
microcephaly
low set ears
small chin (micrognathia)
overlapping fingers 
Rocker Bottom feet
Cardiac - ASD VSD PDA
48
Q

What is the medical term for congenital small chin?

A

micrognathia

49
Q

What is trisomy 13 called?

A

Patau’s Syndrome

50
Q

Give 5 features of Patau’s syndrome

A 
Holoprosencephaly
Structural eye defects
polydactyly 
Cutis Aplasia
Cardiac and renal defects
51
Q

What is Turners Syndrome/?

A

45XO

52
Q

Give 5 features of Turners syndrome

A

Webbed neck, short, wide nipples
Downward turned mouth, downward slapping palpebral fissures
Coarctation of aorta
Streak gonads, lack of secondary sex features
Normal intelligence

53
Q

What is the chromosomal abnormality in Klinefelter’s Syndrome

A

XXY

54
Q

Give 5 features of Klinefelter’s syndrome

A 
infertility
hypogonadism, microgonadism
Gynaecomastia
Tall stature 
Intelligence from normal to moderate LD
55
Q

What is fragile X syndrome?

A

An X linked dominant condition causing learning difficulties

56
Q

Give 5 features of fragile X syndrome

A

Long face, prominent ears, large chin
Learning difficulty
Connective tissue problems
Autistic tendencies/ ADD

57
Q

What are the 5 most common intrauterine infections?

A 
Toxoplasmosis
Other (syphilis)
Rubella
Cytomegalovirus
Herpes Simplex Virus
58
Q

Give 5 features of the neonate born with congenital cytomegalovirus infection

A

Low BW, microcephaly
hepatomegaly with jaundice
Petechiae

59
Q

What is the treatment for congenital cytomegalovirus infection?

A

gangcyclovir

60
Q

What are the complications which can arise form congenital cytomegalovirus infection

A

hearing loss
Mental retardation
psychomotor delay
impaired vision

61
Q

What is the characteristic rash found in congenital rubella infection?

A

blueberry muffin rash - thromocytopenic purpura

62
Q

What are the problems which can present in a baby infected with congenital rubella?

A 
micropthalmos
catarcts
hearing loss
PDA
hepatomegaly

Pediatrics (15 decks)

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